ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)

dbSNP: rs1423411761
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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 RCV001983048 SCV002242868 pathogenic Fanconi anemia 2021-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as p.Tyr316*. This premature translational stop signal has been observed in individual(s) with colorectal cancer (PMID: 29478780). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr311*) 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).

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