ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) (rs752218005)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000191966 SCV000657532 uncertain significance Brown-Vialetto-Van Laere syndrome 1 2017-07-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 312 of the SLC52A3 protein (p.Ala312Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs752218005, ExAC 0.004%). This variant has been reported in combination with another SLC52A3 variant in an individual affected with Brown–Vialetto–Van Laere syndrome (PMID: 2218020). ClinVar contains an entry for this variant (Variation ID: 210021). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneReviews RCV000191966 SCV000246221 pathogenic Brown-Vialetto-Van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only

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