ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4868A>C (p.Lys1623Thr)

dbSNP: rs1824576911
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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 RCV001298676 SCV001487739 uncertain significance Cohen syndrome 2020-08-07 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 1648 of the VPS13B protein (p.Lys1648Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with VPS13B-related conditions.

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