ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1054A>G (p.Asn352Asp)

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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 RCV002414592 SCV002715332 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-20 criteria provided, single submitter clinical testing The p.N352D variant (also known as c.1054A>G), located in coding exon 12 of the CDC73 gene, results from an A to G substitution at nucleotide position 1054. The asparagine at codon 352 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003097116 SCV003029663 uncertain significance Parathyroid carcinoma 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 352 of the CDC73 protein (p.Asn352Asp). 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. 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.

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