ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.199G>A (p.Val67Met)

gnomAD frequency: 0.00001  dbSNP: rs748952219
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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 RCV001237371 SCV001410128 uncertain significance Parathyroid carcinoma 2024-09-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 67 of the CDC73 protein (p.Val67Met). This variant is present in population databases (rs748952219, gnomAD 0.007%). 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: 963356). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics RCV003294123 SCV003995298 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-02 criteria provided, single submitter clinical testing The p.V67M variant (also known as c.199G>A), located in coding exon 2 of the CDC73 gene, results from a G to A substitution at nucleotide position 199. The valine at codon 67 is replaced by methionine, an amino acid with highly 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.

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