ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.41A>C (p.Gln14Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002327844 SCV002627284 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-26 criteria provided, single submitter clinical testing The p.Q14P variant (also known as c.41A>C), located in coding exon 1 of the CDC73 gene, results from an A to C substitution at nucleotide position 41. The glutamine at codon 14 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094581 SCV003450608 uncertain significance Parathyroid carcinoma 2022-03-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 14 of the CDC73 protein (p.Gln14Pro).

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