ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1006A>G (p.Thr336Ala)

dbSNP: rs772344354
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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 RCV001016966 SCV001177979 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-05 criteria provided, single submitter clinical testing The p.T336A variant (also known as c.1006A>G), located in coding exon 8 of the RAD51C gene, results from an A to G substitution at nucleotide position 1006. The threonine at codon 336 is replaced by alanine, an amino acid with similar properties. A different alteration at this position, p.T336P, has been reported in 1 of 3,429 patients with invasive epithelial ovarian cancer (EOC) and was not seen in any of the 2,772 controls or 2,000 additional unaffected women who were BRCA1/BRCA2 mutation-negative (Song H et al, J. Clin. Oncol. 2015 Sep; 33(26):2901-7). This amino acid position is well 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.
Baylor Genetics RCV003467634 SCV004209763 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-10-20 criteria provided, single submitter clinical testing

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