Variant
TTR V50M
NM_000371.4(TTR):c.148G>A (p.Val50Met)
- V30M
- p.V50M:GTG>ATG
- p.Val50Met
- p.V50M
- rs28933979
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 19 March 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
V50M is a missense variant in TTR: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for amyloidosis, hereditary systemic 1 (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 1 more condition.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| amyloidosis, hereditary systemic 1ClinVar VCV000013417 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 18 submissions | 19 March 2026 |
| hyperthyroxinemia, dystransthyretinemicClinVar VCV000013417 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 26 December 2021 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in TTR
V50M lies in exon 2 of the 4 in TTR's MANE Select transcript, NM_000371.4.
Molecular details
| Gene | TTR |
|---|---|
| Transcript | NM_000371.4MANE Select |
| Coding DNA change (HGVS c.) | c.148G>A |
| Protein change (HGVS p.) | p.Val50Metp.V50M |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr18:31592974 G>A |
| Position (GRCh37) | chr18:29172937 G>A |
| dbSNP ID | rs28933979 (opens in a new tab) |
| ClinVar Variation ID | VCV000013417 (opens in a new tab) |
| ClinVar Allele ID | 28456 |
| ClinGen Allele Registry ID | CA256790 (opens in a new tab) |
| ClinVar name | NM_000371.4(TTR):c.148G>A (p.Val50Met) |
| Other names | V30M, p.V50M:GTG>ATG |
TTR V50M in other databases
Reports that look at this variant (2)
These Genome Test condition reports include V50M among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hereditary Amyloidosis | Hereditary Amyloidosis | Autosomal dominant |
| Thyroid Cancer | Thyroid Gland Disorder | |
| Hyperthyroxinemia |
Other variants in TTR
- A39DPathogenic2 stars out of 4
- A101VPathogenic/likely pathogenic2 stars out of 4
- A117SPathogenic2 stars out of 4
- c.210T>APathogenic2 stars out of 4
- c.252T>GPathogenic2 stars out of 4
- C30RPathogenic/likely pathogenic2 stars out of 4
- D38GPathogenic2 stars out of 4
- D58APathogenic2 stars out of 4
- E82KPathogenic/likely pathogenic2 stars out of 4
- E109KPathogenic2 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). TTR V50M (c.148G>A, rs28933979) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/ttr/variants/v50m
Dante Labs. TTR V50M (c.148G>A, rs28933979) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ttr/variants/v50m
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