ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)

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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 RCV003637794 SCV004503618 pathogenic Fanconi anemia 2023-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu215Thrfs*2) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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