ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.1594C>T (p.Arg532Trp) (rs369930405)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516504 SCV000616266 uncertain significance not specified 2016-08-16 criteria provided, single submitter clinical testing
Invitae RCV001242970 SCV001416096 uncertain significance Cohen syndrome 2019-09-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 532 of the VPS13B protein (p.Arg532Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs369930405, ExAC 0.02%). This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 448874). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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