ClinVar Miner

Submissions for variant NM_000639.3(FASLG):c.44del (p.Val15fs)

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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 RCV003517699 SCV004330336 pathogenic Autoimmune lymphoproliferative syndrome type 1 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val15Glyfs*57) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FASLG-related conditions. For these reasons, this variant has been classified as Pathogenic.

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