ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.320G>A (p.Ser107Asn)

dbSNP: rs1572150421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803683 SCV000943565 uncertain significance Parathyroid carcinoma 2018-10-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CDC73-related disease. This sequence change replaces serine with asparagine at codon 107 of the CDC73 protein (p.Ser107Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.
Ambry Genetics RCV002325554 SCV002609366 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-24 criteria provided, single submitter clinical testing The p.S107N variant (also known as c.320G>A), located in coding exon 4 of the CDC73 gene, results from a G to A substitution at nucleotide position 320. The serine at codon 107 is replaced by asparagine, 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.
Fulgent Genetics, Fulgent Genetics RCV002487712 SCV002786727 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2022-03-15 criteria provided, single submitter clinical testing

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