ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) (rs944083227)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411906 SCV000485642 likely pathogenic Fanconi anemia, complementation group C 2016-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000657680 SCV000779429 likely pathogenic not provided 2016-05-05 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1309C>T at the cDNA level and p.Gln437Ter (Q437X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), 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.

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