ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp)

dbSNP: rs1588786822
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298598 SCV001487659 uncertain significance Cohen syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 3557 of the VPS13B protein (p.His3557Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002207). 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: "Benign"; 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.
GeneDx RCV002221622 SCV002498901 uncertain significance not provided 2021-10-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003405514 SCV004113798 uncertain significance VPS13B-related disorder 2023-09-14 criteria provided, single submitter clinical testing The VPS13B c.10594C>G variant is predicted to result in the amino acid substitution p.His3532Asp. 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.
Natera, Inc. RCV001298598 SCV002082750 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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