ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.394dup (p.Thr132fs) (rs730881940)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160934 SCV000211641 pathogenic not provided 2018-07-20 criteria provided, single submitter clinical testing This duplication of one nucleotide in RAD51C is denoted c.394dupA at the cDNA level and p.Thr132AsnfsX23 (T132NfsX23) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GAAAA[dupA]CACA. The duplication causes a frameshift which changes a Threonine to an Asparagine at codon 132, and creates a premature stop codon at position 23 of the new reading frame. This variant is predicted to cause loss of normal protein function through protein truncation. RAD51C Thr132AsnfsX23 has been reported in individuals with breast cancer (Susswein 2016, Wang 2018). We consider this variant to be pathogenic.
Invitae RCV000465754 SCV000550190 pathogenic Fanconi anemia, complementation group O 2018-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr132Asnfs*23) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 182845). Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 23149936). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000569930 SCV000663765 pathogenic Hereditary cancer-predisposing syndrome 2015-10-20 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)
Color RCV000569930 SCV000691230 pathogenic Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing

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