ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.602T>C (p.Leu201Pro)

dbSNP: rs587780839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123376 SCV000166699 uncertain significance Fanconi anemia complementation group O 2023-04-28 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 201 of the RAD51C protein (p.Leu201Pro). This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 136161). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions.
Color Diagnostics, LLC DBA Color Health RCV000581210 SCV000691257 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581210 SCV002657659 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-07 criteria provided, single submitter clinical testing The p.L201P variant (also known as c.602T>C), located in coding exon 4 of the RAD51C gene, results from a T to C substitution at nucleotide position 602. The leucine at codon 201 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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.

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