ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.296_297del (p.Gln99fs)

gnomAD frequency: 0.00007  dbSNP: rs779544327
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986764 SCV001135880 pathogenic Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001858651 SCV002239123 pathogenic Fanconi anemia 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln99Argfs*17) 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 (rs779544327, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 801717). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002284451 SCV002574164 uncertain significance not provided 2022-03-13 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003467543 SCV004197265 likely pathogenic Fanconi anemia complementation group L 2023-08-17 criteria provided, single submitter clinical testing

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