ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003005679 SCV003301390 pathogenic Fanconi anemia 2022-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala296Serfs*7) in the FANCL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCL are known to be pathogenic (PMID: 19405097, 23613520).

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