ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp)

gnomAD frequency: 0.00001  dbSNP: rs538884532
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473564 SCV000550234 uncertain significance Fanconi anemia complementation group O 2023-07-17 criteria provided, single submitter clinical testing 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. This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 203 of the RAD51C protein (p.Asn203Asp). This variant is present in population databases (rs538884532, gnomAD 0.003%). This missense change has been observed in individual(s) with ovarian cancer (PMID: 26261251). ClinVar contains an entry for this variant (Variation ID: 409868). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD51C protein function.
Ambry Genetics RCV001024867 SCV001186954 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-09 criteria provided, single submitter clinical testing The p.N203D variant (also known as c.607A>G), located in coding exon 4 of the RAD51C gene, results from an A to G substitution at nucleotide position 607. The asparagine at codon 203 is replaced by aspartic acid, an amino acid with highly similar properties. This alteration has been reported in 1/3,429 patients with invasive epithelial ovarian cancer (Song H et al. J. Clin. Oncol., 2015 Sep;33:2901-7). This amino acid position is not 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.
Color Diagnostics, LLC DBA Color Health RCV001024867 SCV001345790 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV000473564 SCV002030184 uncertain significance Fanconi anemia complementation group O 2021-11-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002481441 SCV002779291 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2022-04-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568047 SCV005052689 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2024-03-07 criteria provided, single submitter clinical testing

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