ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11732C>T (p.Ala3911Val)

gnomAD frequency: 0.00001  dbSNP: rs978197543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698480 SCV000827146 uncertain significance Cohen syndrome 2019-08-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 3936 of the VPS13B protein (p.Ala3936Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with VPS13B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Natera, Inc. RCV000698480 SCV002084994 uncertain significance Cohen syndrome 2021-06-14 no assertion criteria provided clinical testing

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