ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) (rs759900071)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483955 SCV000566937 pathogenic not provided 2016-11-04 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1069C>T at the cDNA level and p.Gln357Ter (Q357X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed with another FANCC nonsense variant in an individual reported to have Fanconi Anemia (Nicchia 2015) and is considered to be pathogenic.
Invitae RCV001035863 SCV001199202 pathogenic Fanconi anemia 2019-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln357*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759900071, ExAC 0.002%). This variant has been observed in an affected with Fanconi anemia (PMID: 26740942). ClinVar contains an entry for this variant (Variation ID: 419252). Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000984263 SCV001132389 likely pathogenic Fanconi anemia, complementation group C 2014-01-02 no assertion criteria provided clinical testing

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