ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.388G>T (p.Glu130Ter)

dbSNP: rs876661231
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219758 SCV000279851 likely pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing This variant is denoted FANCC c.388G>T at the cDNA level and p.Glu130Ter (E130X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), 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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