ClinVar Miner

Submissions for variant NM_000136.2(FANCC):c.997-?_1154+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204455 SCV000259673 pathogenic Fanconi anemia 2015-07-30 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 11 and 12 of the FANCC gene. causing a frameshift at codon 333. This creates a premature translational stop signal (p.Leu333Valfs*7) and is expected to result in an absent or disrupted protein product. This deletion extends into the introns and the breakpoints have not been determined by this assay. 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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