ClinVar Miner

Submissions for variant NM_000136.2(FANCC):c.-78-?_250+?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 RCV000228477 SCV000283579 pathogenic Fanconi anemia 2016-04-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-3 of the FANCC gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 3 of the FANCC gene. Truncating variants in FANCC are known to be pathogenic. This particular truncation has been reported in the literature in 2 siblings with Cafe-au-lait spots, malrotated kidney, ureter duplication, microphallus harbouring another mutation (c.165+1G>T) inherited paternally and ex 2-3 deletion inherited maternally (PMID: 20869034). This deletion is also known as( c.1-250del) in the literature. For these reasons, this variant has been classified as Pathogenic.

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