ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) (rs766105286)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409033 SCV000486882 likely pathogenic Fanconi anemia, complementation group C 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV000205214 SCV000259750 pathogenic Fanconi anemia 2015-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 430 (p.Tyr430*). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.

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