ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1424C>T (p.Thr475Ile)

dbSNP: rs765774825
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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 RCV001871027 SCV002145343 uncertain significance Cohen syndrome 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 475 of the VPS13B protein (p.Thr475Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs765774825, gnomAD 0.003%). 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: 1375602). 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 tolerated. 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.

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