ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.689T>A (p.Val230Glu)

dbSNP: rs1558285020
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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 RCV000699272 SCV000827974 uncertain significance Parathyroid carcinoma 2018-04-18 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CDC73-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glutamic acid at codon 230 of the CDC73 protein (p.Val230Glu). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glutamic acid.

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