ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1013A>C (p.Gln338Pro)

dbSNP: rs993696396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638112 SCV000759597 uncertain significance Parathyroid carcinoma 2024-09-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 338 of the CDC73 protein (p.Gln338Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. ClinVar contains an entry for this variant (Variation ID: 531640). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CDC73 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002360550 SCV002623806 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-05 criteria provided, single submitter clinical testing The p.Q338P variant (also known as c.1013A>C), located in coding exon 11 of the CDC73 gene, results from an A to C substitution at nucleotide position 1013. The glutamine at codon 338 is replaced by proline, 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.
GeneDx RCV004777787 SCV005389954 uncertain significance not provided 2024-04-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15923622, 15632063)

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