ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.485dup (p.Glu163fs)

dbSNP: rs1554842611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463391 SCV000549972 pathogenic Fanconi anemia 2016-07-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in FANCC are known to be pathogenic (PMID: 17924555). This sequence change inserts 1 nucleotide in exon 6 of the FANCC mRNA (c.485dupG), causing a frameshift at codon 163. This creates a premature translational stop signal (p.Glu163Argfs*5) and is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV004568043 SCV005057613 likely pathogenic Fanconi anemia complementation group C 2024-01-20 criteria provided, single submitter clinical testing

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