ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser)

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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 RCV002606985 SCV003506443 uncertain significance Cohen syndrome 2022-06-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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 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 is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2830 of the VPS13B protein (p.Leu2830Ser).
PreventionGenetics, part of Exact Sciences RCV003427579 SCV004117070 uncertain significance VPS13B-related disorder 2022-08-30 criteria provided, single submitter clinical testing The VPS13B c.8414T>C variant is predicted to result in the amino acid substitution p.Leu2805Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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