ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1525C>T (p.Pro509Ser)

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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 RCV002296931 SCV002597431 uncertain significance Parathyroid carcinoma 2022-07-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 509 of the CDC73 protein (p.Pro509Ser).
Ambry Genetics RCV002391404 SCV002709649 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-06 criteria provided, single submitter clinical testing The p.P509S variant (also known as c.1525C>T), located in coding exon 16 of the CDC73 gene, results from a C to T substitution at nucleotide position 1525. The proline at codon 509 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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