rs76947760
A SNP in the SLC52A3 gene on chromosome 20. Its most notable genotype is T;T: Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
- Gene
- SLC52A3
- Location
- Chr 20763,523 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;TBadCarrier of a Brown-Vialetto-Van Laere syndrome mutation
- T;TMost notableBadBrown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other SLC52A3 SNPs
- rs145431028C;CBrown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommendedVery important
- rs199588390C;CBrown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommendedVery important
- rs267606683T;TBrown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommendedVery important
- rs267606684A;ABrown-Vialetto-Van Laere Syndrome; riboflavin treatment recommendedVery important
- rs267606685G;GBrown-Vialetto-Van Laere SyndromeVery important
- rs267606687G;GBrown-Vialetto-Van Laere Syndrome; riboflavin treatment recommendedVery important
- rs267606688T;TBrown-Vialetto-Van Laere Syndrome; riboflavin treatment recommendedVery important
- rs370499474A;ABrown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommendedVery important
Notes
From SNPedia
Notes
aka c.1048T>A (p.Leu350Met) Conflicting interpretations of pathogenicity exist for this variant in ClinVar; the most recent (by Invitae in 2017) indicates this variant is considered (by them) to be benign.
A;T
Unaffected carrier in absence of second mutation; see discussion at Brown-Vialetto-Van laere syndrome.
T;T
See discussion at Brown-Vialetto-Van laere syndrome, including recommendation for immediate riboflavin supplementation.
Source and license
Adapted from rs76947760 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.