ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2083G>A (p.Val695Met)

dbSNP: rs763463283
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318716 SCV001509429 uncertain significance Cohen syndrome 2022-02-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1019297). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 695 of the VPS13B protein (p.Val695Met). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.

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