ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.424A>G (p.Ser142Gly)

dbSNP: rs2132453819
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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 RCV002048303 SCV002302094 uncertain significance Cohen syndrome 2022-11-08 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt VPS13B protein function. ClinVar contains an entry for this variant (Variation ID: 1514609). 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 serine with glycine at codon 142 of the VPS13B protein (p.Ser142Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine.
PreventionGenetics, part of Exact Sciences RCV004744213 SCV005342997 uncertain significance VPS13B-related disorder 2023-12-19 no assertion criteria provided clinical testing The VPS13B c.424A>G variant is predicted to result in the amino acid substitution p.Ser142Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, 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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