ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1520A>G (p.Asn507Ser)

gnomAD frequency: 0.00004  dbSNP: rs749312835
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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 RCV002037087 SCV002318359 uncertain significance Cohen syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 507 of the VPS13B protein (p.Asn507Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs749312835, ExAC 0.02%). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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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