ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2518G>A (p.Val840Met)

dbSNP: rs141694201
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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 RCV000799131 SCV000938781 uncertain significance Cohen syndrome 2022-02-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 840 of the VPS13B protein (p.Val840Met). This variant is present in population databases (rs141694201, gnomAD 0.002%). 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: 645108). 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: "Possibly 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.
Natera, Inc. RCV000799131 SCV002079518 uncertain significance Cohen syndrome 2021-05-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742641 SCV005347207 uncertain significance VPS13B-related disorder 2023-12-19 no assertion criteria provided clinical testing The VPS13B c.2518G>A variant is predicted to result in the amino acid substitution p.Val840Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-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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