ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)

gnomAD frequency: 0.00001  dbSNP: rs1410356625
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666989 SCV000791373 likely pathogenic Fanconi anemia complementation group C 2017-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381636 SCV001580118 pathogenic Fanconi anemia 2023-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln473*) 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 present in population databases (no rsID available, gnomAD 0.007%). 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: 551836).
Revvity Omics, Revvity RCV000666989 SCV002022323 pathogenic Fanconi anemia complementation group C 2019-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388175 SCV002698530 pathogenic Hereditary cancer-predisposing syndrome 2020-12-03 criteria provided, single submitter clinical testing The p.Q473* pathogenic mutation (also known as c.1417C>T), located in coding exon 13 of the FANCC gene, results from a C to T substitution at nucleotide position 1417. This changes the amino acid from a glutamine to a stop codon within coding exon 13. 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.
Fulgent Genetics, Fulgent Genetics RCV000666989 SCV002803924 pathogenic Fanconi anemia complementation group C 2022-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666989 SCV004196689 pathogenic Fanconi anemia complementation group C 2023-01-20 criteria provided, single submitter clinical testing
GeneDx RCV004723049 SCV005332390 pathogenic not provided 2024-02-27 criteria provided, single submitter clinical testing Observed in individuals with breast cancer tested at GeneDx and in published literature (PMID: 32427313); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17924555, 32427313)
Leiden Open Variation Database RCV000666989 SCV001365339 pathogenic Fanconi anemia complementation group C 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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