ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.896C>T (p.Pro299Leu)

dbSNP: rs878855182
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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 RCV000233201 SCV000291251 uncertain significance Fanconi anemia complementation group O 2018-08-28 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed to segregate with ovarian cancer in a family (Invitae). ClinVar contains an entry for this variant (Variation ID: 241780). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 299 of the RAD51C protein (p.Pro299Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV004943817 SCV005490156 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-28 criteria provided, single submitter clinical testing The p.P299L variant (also known as c.896C>T), located in coding exon 6 of the RAD51C gene, results from a C to T substitution at nucleotide position 896. The proline at codon 299 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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