ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)

dbSNP: rs777918411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666180 SCV000790428 likely pathogenic Fanconi anemia complementation group C 2017-03-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666180 SCV004196658 likely pathogenic Fanconi anemia complementation group C 2023-09-16 criteria provided, single submitter clinical testing
Invitae RCV003635928 SCV004371799 pathogenic Fanconi anemia 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551191). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is present in population databases (rs777918411, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu90*) 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).

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