ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11481T>G (p.His3827Gln)

dbSNP: rs2130972661
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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 RCV001925281 SCV002173688 uncertain significance Cohen syndrome 2021-07-21 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with glutamine at codon 3852 of the VPS13B protein (p.His3852Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine.

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