Variant
IDUA A79V
NM_000203.5(IDUA):c.236C>T (p.Ala79Val)
- p.Ala79Val
- p.A79V
- rs747981483
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 4 May 2026
- Expert panel
- ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
A79V is a missense variant in IDUA: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Mucopolysaccharidosis type I (Hurler, Hurler-Scheie and Scheie syndromes) (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Mucopolysaccharidosis type I (Hurler, Hurler-Scheie and Scheie syndromes)ClinVar VCV001458769 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 4 May 2026 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Molecular details
| Gene | IDUA |
|---|---|
| Transcript | NM_000203.5MANE Select |
| Coding DNA change (HGVS c.) | c.236C>T |
| Protein change (HGVS p.) | p.Ala79Valp.A79V |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr4:987886 C>T |
| Position (GRCh37) | chr4:981674 C>T |
| dbSNP ID | rs747981483 (opens in a new tab) |
| ClinVar Variation ID | VCV001458769 (opens in a new tab) |
| ClinVar Allele ID | 224720 |
| ClinGen Allele Registry ID | CA356987 (opens in a new tab) |
| ClinVar name | NM_000203.5(IDUA):c.236C>T (p.Ala79Val) |
IDUA A79V in other databases
Reports that look at this variant (2)
These Genome Test condition reports include A79V among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Lysosomal Storage Disease | Lysosomal storage disease (other and unspecified types) | |
| Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes) | Mucopolysaccharidosis type I (Hurler, Hurler-Scheie and Scheie syndromes) | Autosomal recessive |
Other variants in IDUA
- A75TPathogenic3 stars out of 4
- A319VLikely pathogenic3 stars out of 4
- A361Gfs*79Likely pathogenic3 stars out of 4
- c.1A>CPathogenic3 stars out of 4
- c.1A>GPathogenic3 stars out of 4
- c.2T>CPathogenic3 stars out of 4
- c.3G>APathogenic3 stars out of 4
- c.159-1_159insCPathogenic3 stars out of 4
- c.300-3C>GPathogenic3 stars out of 4
- c.385+1G>APathogenic3 stars out of 4
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
Dante Labs. (16 October 2026). IDUA A79V (c.236C>T, rs747981483) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/idua/variants/a79v
Dante Labs. IDUA A79V (c.236C>T, rs747981483) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/idua/variants/a79v
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