ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1405A>G (p.Ile469Val)

gnomAD frequency: 0.00001  dbSNP: rs1252554973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060019 SCV001224679 uncertain significance Parathyroid carcinoma 2023-05-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 854881). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CDC73 protein function. 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 isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 469 of the CDC73 protein (p.Ile469Val).
Ambry Genetics RCV002393292 SCV002697786 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-28 criteria provided, single submitter clinical testing The p.I469V variant (also known as c.1405A>G), located in coding exon 15 of the CDC73 gene, results from an A to G substitution at nucleotide position 1405. The isoleucine at codon 469 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
GeneDx RCV003117731 SCV003798779 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports 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)

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