ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.13del (p.Glu5fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003842829 SCV004641437 pathogenic Fanconi anemia 2023-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu5Lysfs*36) 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 present in population databases (rs764407713, gnomAD 0.002%). 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.
Baylor Genetics RCV004573356 SCV005057736 likely pathogenic Fanconi anemia complementation group L 2024-01-09 criteria provided, single submitter clinical testing

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