ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.312dup (p.Arg105Ter)

dbSNP: rs2133503921
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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 RCV001987558 SCV002223346 pathogenic Autoimmune lymphoproliferative syndrome type 1 2021-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg105*) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FAS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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