ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.356del (p.Cys119fs)

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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 RCV002810783 SCV003209656 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-05-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FAS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys119Serfs*68) in the FAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAS are known to be pathogenic (PMID: 10875918, 22237435). For these reasons, this variant has been classified as Pathogenic.

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