ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) (rs776054094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484266 SCV000569290 likely pathogenic not provided 2016-05-31 criteria provided, single submitter clinical testing This variant is denoted FANCC c.808A>T at the cDNA level and p.Arg270Ter (R270X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (AGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Counsyl RCV000984174 SCV001132189 likely pathogenic Fanconi anemia, complementation group C 2016-11-11 no assertion criteria provided clinical testing

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