ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.507del (p.Phe169fs)

dbSNP: rs1588218493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804363 SCV000944269 pathogenic Fanconi anemia 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe169Leufs*25) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 649429). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002336630 SCV002642920 pathogenic Hereditary cancer-predisposing syndrome 2021-11-19 criteria provided, single submitter clinical testing The c.507delT pathogenic mutation, located in coding exon 5 of the FANCC gene, results from a deletion of one nucleotide at nucleotide position 507, causing a translational frameshift with a predicted alternate stop codon (p.F169Lfs*25). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV003467402 SCV004196664 likely pathogenic Fanconi anemia complementation group C 2024-03-25 criteria provided, single submitter clinical testing

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