ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.651+1G>A

dbSNP: rs1564696849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695507 SCV000824013 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-02-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 573761). This sequence change affects a donor splice site in intron 7 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 individuals with autosomal dominant autoimmune lymphoproliferative syndrome (ALPS) (PMID: 9533447, 15459303, 22237435). Studies have shown that disruption of this splice site results in skipping of exon 7 and introduces a premature termination codon (PMID: 15459303). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000695507 SCV000893852 likely pathogenic Autoimmune lymphoproliferative syndrome type 1 2021-07-13 criteria provided, single submitter clinical testing

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