ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.547A>G (p.Ile183Val)

gnomAD frequency: 0.00001  dbSNP: rs753475114
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569634 SCV000667111 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-30 criteria provided, single submitter clinical testing The p.I183V variant (also known as c.547A>G), located in coding exon 3 of the RAD51C gene, results from an A to G substitution at nucleotide position 547. The isoleucine at codon 183 is replaced by valine, an amino acid with highly similar properties. 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.
Mendelics RCV000709505 SCV000839329 uncertain significance Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000569634 SCV000904143 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798377 SCV000937992 uncertain significance Fanconi anemia complementation group O 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 183 of the RAD51C protein (p.Ile183Val). This variant is present in population databases (rs753475114, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 482164). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV003441948 SCV004170843 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 14704354)
Baylor Genetics RCV004569163 SCV005053962 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-12-26 criteria provided, single submitter clinical testing

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