ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.368C>G (p.Ser123Ter)

dbSNP: rs1554842855
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657685 SCV000779434 likely pathogenic not provided 2016-05-12 criteria provided, single submitter clinical testing This variant is denoted FANCC c.368C>G at the cDNA level and p.Ser123Ter (S123X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>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.

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