ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6592G>A (p.Gly2198Arg)

gnomAD frequency: 0.00001  dbSNP: rs751576277
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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 RCV001929625 SCV002199656 uncertain significance Cohen syndrome 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2223 of the VPS13B protein (p.Gly2223Arg). This variant is present in population databases (rs751576277, gnomAD 0.01%). 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: 1426849). 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.
PreventionGenetics, part of Exact Sciences RCV004743660 SCV005353518 uncertain significance VPS13B-related disorder 2024-03-05 no assertion criteria provided clinical testing The VPS13B c.6592G>A variant is predicted to result in the amino acid substitution p.Gly2198Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. 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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