Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000000164 | SCV000775602 | uncertain significance | Brown-Vialetto-van Laere syndrome 1 | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 132 of the SLC52A3 protein (p.Arg132Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs267606684, ExAC 0.006%). This missense change has been observed in individual(s) with Brown-Vialetto-Van Laere syndrome (BVVLS) (PMID: 2020633). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 141). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects SLC52A3 function (PMID: 22273710). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
OMIM | RCV000000164 | SCV000020307 | pathogenic | Brown-Vialetto-van Laere syndrome 1 | 2010-03-12 | no assertion criteria provided | literature only | |
Gene |
RCV000000164 | SCV000246215 | not provided | Brown-Vialetto-van Laere syndrome 1 | no assertion provided | literature only |