ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6117C>A (p.Asn2039Lys)

dbSNP: rs2130179604
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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 RCV001879434 SCV002142161 uncertain significance Cohen syndrome 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 2064 of the VPS13B protein (p.Asn2064Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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