ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462409 SCV000549952 pathogenic Fanconi anemia 2019-03-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp113*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 370175). Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000574200 SCV000673349 pathogenic Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Baylor Genetics RCV000412313 SCV001163258 pathogenic Fanconi anemia, complementation group C criteria provided, single submitter clinical testing
Counsyl RCV000412313 SCV000485422 likely pathogenic Fanconi anemia, complementation group C 2015-12-08 no assertion criteria provided clinical testing

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