ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7430C>T (p.Ala2477Val)

dbSNP: rs761890013
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001917564 SCV002163344 uncertain significance Cohen syndrome 2023-06-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1390286). This variant is present in population databases (rs761890013, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2502 of the VPS13B protein (p.Ala2502Val).

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