ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.268del (p.Leu90fs) (rs869320684)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388973 SCV001590167 pathogenic Fanconi anemia 2020-03-04 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fanconi anemia (PMID: 25754594). ClinVar contains an entry for this variant (Variation ID: 209076). Loss-of-function variants in FANCL are known to be pathogenic (PMID: 19405097, 23613520). For these reasons, this variant has been classified as Pathogenic.
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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