ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3839G>A (p.Ser1280Asn)

gnomAD frequency: 0.00001  dbSNP: rs1441125749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346751 SCV001540977 uncertain significance Cohen syndrome 2020-01-28 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 1280 of the VPS13B protein (p.Ser1280Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.
Breakthrough Genomics, Breakthrough Genomics RCV004692606 SCV005196056 uncertain significance not provided criteria provided, single submitter not provided

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