ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7427C>A (p.Thr2476Lys)

dbSNP: rs2130668663
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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 RCV001969309 SCV002248237 uncertain significance Cohen syndrome 2023-08-10 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 1472558). 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 threonine with lysine at codon 2501 of the VPS13B protein (p.Thr2501Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine.

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