ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7477T>A (p.Ser2493Thr)

gnomAD frequency: 0.00001  dbSNP: rs779401089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245587 SCV001418884 uncertain significance Cohen syndrome 2022-08-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 2518 of the VPS13B protein (p.Ser2518Thr). This variant is present in population databases (rs779401089, gnomAD 0.004%). 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: 970083). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001245587 SCV002082650 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004743361 SCV005362576 uncertain significance VPS13B-related disorder 2024-08-14 no assertion criteria provided clinical testing The VPS13B c.7477T>A variant is predicted to result in the amino acid substitution p.Ser2493Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Finnish) 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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