ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) (rs1057516291)

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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 RCV000574200 SCV000673349 pathogenic Hereditary cancer-predisposing syndrome 2017-07-19 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)
Counsyl RCV000412313 SCV000485422 likely pathogenic Fanconi anemia, complementation group C 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000462409 SCV000549952 pathogenic Fanconi anemia 2016-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 113 (p.Trp113*) of the FANCC gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.

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