ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)

dbSNP: rs1675462949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060938 SCV001225658 uncertain significance Parathyroid carcinoma 2022-07-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 855632). 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 aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3 of the CDC73 protein (p.Asp3Gly).
Ambry Genetics RCV002374954 SCV002684056 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-18 criteria provided, single submitter clinical testing The p.D3G variant (also known as c.8A>G), located in coding exon 1 of the CDC73 gene, results from an A to G substitution at nucleotide position 8. The aspartic acid at codon 3 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002482051 SCV002790970 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2022-02-03 criteria provided, single submitter clinical testing

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