ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7330T>A (p.Ser2444Thr)

dbSNP: rs373779146
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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 RCV002004513 SCV002233492 uncertain significance Cohen syndrome 2021-04-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with VPS13B-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 2469 of the VPS13B protein (p.Ser2469Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine.

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