ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.145G>T (p.Gly49Cys)

dbSNP: rs200806263
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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 RCV000793445 SCV000932797 uncertain significance Parathyroid carcinoma 2020-11-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 49 of the CDC73 protein (p.Gly49Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CDC73-related disease. This variant is present in population databases (rs200806263, ExAC 0.002%).
Ambry Genetics RCV001011689 SCV001172039 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-13 criteria provided, single submitter clinical testing The p.G49C variant (also known as c.145G>T), located in coding exon 2 of the CDC73 gene, results from a G to T substitution at nucleotide position 145. The glycine at codon 49 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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