ClinVar Miner

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

dbSNP: rs766105286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205214 SCV000259750 pathogenic Fanconi anemia 2022-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr430*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 219717). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is not present in population databases (gnomAD no frequency).
Counsyl RCV000409033 SCV000486882 likely pathogenic Fanconi anemia complementation group C 2016-08-29 no assertion criteria provided clinical testing

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