ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1762A>G (p.Ser588Gly)

gnomAD frequency: 0.00009  dbSNP: rs759332797
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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 RCV001061557 SCV001226304 uncertain significance Cohen syndrome 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 588 of the VPS13B protein (p.Ser588Gly). This variant is present in population databases (rs759332797, gnomAD 0.05%). 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: 856158). 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.
Genome-Nilou Lab RCV001061557 SCV001806349 uncertain significance Cohen syndrome 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001061557 SCV002079479 uncertain significance Cohen syndrome 2020-03-04 no assertion criteria provided clinical testing

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