ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.268del (p.Leu90fs)

dbSNP: rs869320684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388973 SCV001590167 pathogenic Fanconi anemia 2021-02-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Fanconi anemia (PMID: 25754594). ClinVar contains an entry for this variant (Variation ID: 209076). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu90Phefs*6) 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).
OMIM RCV000191022 SCV000246000 pathogenic Fanconi anemia complementation group L 2015-05-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001195063 SCV001365348 pathogenic VATER association 2015-05-01 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Annalisa Vetro.

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