ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp)

gnomAD frequency: 0.00002  dbSNP: rs267606684
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Total submissions: 3
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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
GeneReviews RCV000000164 SCV000246215 not provided Brown-Vialetto-van Laere syndrome 1 no assertion provided literature only

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