ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309751 SCV002603630 likely pathogenic Fanconi anemia complementation group C 2021-11-13 criteria provided, single submitter clinical testing NM_000136.2(FANCC):c.1029C>G(Y343*) is expected to be pathogenic in the context of Fanconi anemia, FANCC-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in FANCC, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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