ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.335-2A>G

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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 RCV003062287 SCV003441584 pathogenic Autoimmune lymphoproliferative syndrome type 1 2024-01-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the FAS gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of autoimmune lymphoproliferative syndrome (PMID: 9533447, 17999750). ClinVar contains an entry for this variant (Variation ID: 2136912). Studies have shown that disruption of this splice site alters FAS gene expression (PMID: 9533447, 17999750). Studies have shown that disruption of this splice site results in skipping of exon 4 and introduces a premature termination codon (PMID: 9533447). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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