ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)

gnomAD frequency: 0.00001  dbSNP: rs763095800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051842 SCV001216021 uncertain significance Parathyroid carcinoma 2023-09-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 122 of the CDC73 protein (p.Thr122Ala). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 848147). 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.
Ambry Genetics RCV002348401 SCV002619367 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-03 criteria provided, single submitter clinical testing The p.T122A variant (also known as c.364A>G), located in coding exon 4 of the CDC73 gene, results from an A to G substitution at nucleotide position 364. The threonine at codon 122 is replaced by alanine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV002479321 SCV002785111 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2021-07-15 criteria provided, single submitter clinical testing

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