ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.498del (p.Glu167fs)

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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 RCV002825303 SCV003206548 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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.Glu167Argfs*20) 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).

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