--- title: "DYSF V318E (c.953T>A, rs398123807) | Dante Labs" description: "ClinVar classifies DYSF V318E as Pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/dysf/variants/v318e" --- 1. [Genes](https://dantelabs.com/genes) 2. [DYSF](https://dantelabs.com/genes/dysf) 3. DYSF V318E Variant # DYSF V318E NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) Also known as - p.Val318Glu - p.V318E - rs398123807 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 8 January 2025 * Expert panel ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary V318E is a missense variant in DYSF: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for autosomal recessive limb-girdle muscular dystrophy (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ---------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | -------------- | | autosomal recessive limb-girdle muscular dystrophy[ClinVar VCV000094365 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/94365/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 8 January 2025 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in DYSF V318E lies in exon 10 of the 56 in DYSF's MANE Select transcript, NM_001130987.2. [DYSF variants in exon 10 →](https://dantelabs.com/genes/dysf/variants?exon=10) [DYSF's gene diagram →](https://dantelabs.com/genes/dysf#gene-structure) ## Molecular details | Gene | [DYSF](https://dantelabs.com/genes/dysf) | | --------------------------- | -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_001130987.2 MANE Select | | Coding DNA change (HGVS c.) | c.953T>A | | Protein change (HGVS p.) | p.Val318Glu p.V318E | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) [exonic_splice_region_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0002084) | | Predicted impact | Moderate | | Position (GRCh38) | chr2:71516990 T>A | | Position (GRCh37) | chr2:71744120 T>A | | dbSNP ID | [rs398123807 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs398123807) | | ClinVar Variation ID | [VCV000094365 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/94365/) | | ClinVar Allele ID | 100265 | | ClinGen Allele Registry ID | [CA222220 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA222220) | | ClinVar name | NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) | ## DYSF V318E in other databases - [ClinVar VCV000094365 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/94365/) - [dbSNP rs398123807 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs398123807) - [ClinGen Allele Registry CA222220 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA222220) - [gnomAD 2-71516990-T-A (opens in a new tab)](https://gnomad.broadinstitute.org/variant/2-71516990-T-A?dataset=gnomad_r4) - [Ensembl rs398123807 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs398123807) ## Reports that look at this variant (1) These Genome Test condition reports include V318E among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------------------------------- | ------------------------------ | ----------- | | [Limb-Girdle Muscular Dystrophy](https://dantelabs.com/conditions/limb-girdle-muscular-dystrophy) | Limb-girdle Muscular Dystrophy | | ## Other variants in DYSF - [A116Pfs\*36 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/a116pfs36) - [A945Lfs\*21 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/a945lfs21) - [A2105T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/a2105t) - [c.92-1496_239+950del Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/c-92-1496to239plus950del) - [c.240-159_345+1237del Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/c-240-159to345plus1237del) - [c.460+2T>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/c-460plus2t-g) - [c.759+1G>C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/c-759plus1g-c) - [c.888+1G>A Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/c-888plus1g-a) - [c.991G>C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/c-991g-c) - [c.1003-3C>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/dysf/variants/c-1003-3c-a) [All DYSF variants](https://dantelabs.com/genes/dysf/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). DYSF V318E (c.953T>A, rs398123807) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/dysf/variants/v318e Vancouver > Dante Labs. DYSF V318E (c.953T>A, rs398123807) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/dysf/variants/v318e Download citation [RIS](https://dantelabs.com/genes/dysf/variants/v318e/cite.ris) [BibTeX](https://dantelabs.com/genes/dysf/variants/v318e/cite.bib) [CSL-JSON](https://dantelabs.com/genes/dysf/variants/v318e/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)