ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.651+2T>C

dbSNP: rs267607122
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382233 SCV001580908 pathogenic Autoimmune lymphoproliferative syndrome type 1 2023-07-10 criteria provided, single submitter clinical testing 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 (PMID: 9533447, 15459303, 22237435). ClinVar contains an entry for this variant (Variation ID: 16514). 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.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001382233 SCV004045938 pathogenic Autoimmune lymphoproliferative syndrome type 1 2023-06-23 criteria provided, single submitter clinical testing
OMIM RCV000017978 SCV000038257 pathogenic Autoimmune lymphoproliferative syndrome, type 1a 2004-09-30 no assertion criteria provided literature only

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