ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.761A>G (p.Lys254Arg)

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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 RCV002890392 SCV003242543 uncertain significance Cohen syndrome 2021-12-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 254 of the VPS13B protein (p.Lys254Arg).

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