ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.11162G>A (p.Arg3721Gln) (rs757726642)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517924 SCV000616265 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259605 SCV000470860 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000259605 SCV000755386 uncertain significance Cohen syndrome 2017-11-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 3721 of the VPS13B protein (p.Arg3721Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs757726642, ExAC 0.03%). This variant has not been reported in the literature in individuals with VPS13B-related disease. ClinVar contains an entry for this variant (Variation ID: 361095). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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