ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.179_180CT[1] (p.Leu61fs) (rs786203945)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167466 SCV000218322 pathogenic Hereditary cancer-predisposing syndrome 2017-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000456496 SCV000550223 pathogenic Fanconi anemia, complementation group O 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu61Alafs*11) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754525165, ExAC 0.006%). This variant has been reported in an individual affected with prostate cancer (PMID: 27433846). This variant is also known as c.179_180del in the literature. ClinVar contains an entry for this variant (Variation ID: 187716). Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657321 SCV000779052 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing This deletion of two nucleotides in RAD51C is denoted c.181_182delCT at the cDNA level and p.Leu61AlafsX11 (L61AfsX11) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AACT[delCT]GCAA. The deletion causes a frameshift which changes a Leucine to an Alanine at codon 61, and creates a premature stop codon at position 11 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. RAD51C c.181_182delCT, also known as c.179_180del by alternate nomenclature, has been observed in at least one prostate cancer patient (Pritchard 2016). We consider this variant to be pathogenic.

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