ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002442316 SCV002746390 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-19 criteria provided, single submitter clinical testing The p.G100S variant (also known as c.298G>A), located in coding exon 3 of the CDC73 gene, results from a G to A substitution at nucleotide position 298. The glycine at codon 100 is replaced by serine, an amino acid with 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.
Baylor Genetics RCV003464561 SCV004215587 uncertain significance Hyperparathyroidism 1 2023-05-31 criteria provided, single submitter clinical testing

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