ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.504A>C (p.Arg168Ser)

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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 RCV004943616 SCV005490127 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-18 criteria provided, single submitter clinical testing The p.R168S variant (also known as c.504A>C), located in coding exon 3 of the RAD51C gene, results from an A to C substitution at nucleotide position 504. The arginine at codon 168 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Myriad Genetics, Inc. RCV005249736 SCV005895010 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2024-11-25 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 39299233]. This variant is expected to disrupt protein structure [Myriad internal data].

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