ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.403del (p.Cys135fs)

dbSNP: rs1564692984
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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 RCV001939671 SCV002235662 pathogenic Autoimmune lymphoproliferative syndrome type 1 2021-06-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys135Valfs*52) 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 premature translational stop signal has been observed in individual(s) with autoimmune lymphoproliferative syndrome (PMID: 22983577). For these reasons, this variant has been classified as Pathogenic.

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