ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.907G>A (p.Glu303Lys)

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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 RCV002378579 SCV002684676 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-27 criteria provided, single submitter clinical testing The p.E303K variant (also known as c.907G>A), located in coding exon 7 of the RAD51C gene, results from a G to A substitution at nucleotide position 907. The glutamic acid at codon 303 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154252 SCV003843611 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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