ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)

dbSNP: rs1060500021
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461848 SCV000541298 uncertain significance Parathyroid carcinoma 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 340 of the CDC73 protein (p.Val340Ile). 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: 403896). 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 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 RCV002356631 SCV002658751 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-30 criteria provided, single submitter clinical testing The p.V340I variant (also known as c.1018G>A), located in coding exon 11 of the CDC73 gene, results from a G to A substitution at nucleotide position 1018. The valine at codon 340 is replaced by isoleucine, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV002488996 SCV002780280 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2021-08-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463839 SCV004215586 uncertain significance Hyperparathyroidism 1 2023-06-09 criteria provided, single submitter clinical testing

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