ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1432C>G (p.Leu478Val)

dbSNP: rs1060500025
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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 RCV000464692 SCV000541304 uncertain significance Parathyroid carcinoma 2021-02-10 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDC73-related disease. This sequence change replaces leucine with valine at codon 478 of the CDC73 protein (p.Leu478Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.

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