ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)

dbSNP: rs1825775052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045963 SCV001209840 pathogenic Fanconi anemia 2019-12-03 criteria provided, single submitter clinical testing Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln320*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002379526 SCV002695653 pathogenic Hereditary cancer-predisposing syndrome 2020-07-31 criteria provided, single submitter clinical testing The p.Q320* pathogenic mutation (also known as c.958C>T), located in coding exon 9 of the FANCC gene, results from a C to T substitution at nucleotide position 958. This changes the amino acid from a glutamine to a stop codon within coding exon 9. 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 RCV003462534 SCV004196698 likely pathogenic Fanconi anemia complementation group C 2022-04-25 criteria provided, single submitter clinical testing

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