ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.18C>G (p.Phe6Leu)

dbSNP: rs774685897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065676 SCV001230646 uncertain significance Fanconi anemia complementation group O 2019-12-30 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with pulmonary fibrosis and thrombocytopenia (PMID: 30995915). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 6 of the RAD51C protein (p.Phe6Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Ambry Genetics RCV002411589 SCV002718137 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-25 criteria provided, single submitter clinical testing The p.F6L variant (also known as c.18C>G), located in coding exon 1 of the RAD51C gene, results from a C to G substitution at nucleotide position 18. The phenylalanine at codon 6 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly 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.

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