ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.718_719insGTCG (p.Met240fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron RCV002305674 SCV002568438 likely pathogenic Autoimmune lymphoproliferative syndrome type 1 no assertion criteria provided clinical testing We identified a novel somatic mutation in FAS (c.718_719insGTCG, p.Met240SerfsX8) by Sanger sequencing on purified CD3+ cells in an early-onset ALPS case. A complete description of this variant is avialable at Batlle-Masó et al 2022 (PMID: 36466883)

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