ClinVar Miner

Submissions for variant NM_000639.3(FASLG):c.343C>T (p.Arg115Ter)

dbSNP: rs773045347
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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 RCV001948225 SCV002207493 pathogenic Autoimmune lymphoproliferative syndrome type 1 2021-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg115*) in the FASLG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FASLG are known to be pathogenic (PMID: 22857792, 25451160). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FASLG-related conditions. This variant is present in population databases (rs773045347, ExAC 0.01%).

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