ClinVar Miner

Submissions for variant NM_000043.5(FAS):c.651+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics RCV000695507 SCV000893852 likely pathogenic Autoimmune lymphoproliferative syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000695507 SCV000824013 pathogenic Autoimmune lymphoproliferative syndrome 2018-07-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the FAS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with autoimmune lymphoproliferative syndrome (ALPS) (PMID: 15459303, 22237435). Experimental studies have shown that this sequence change disrupts normal mRNA splicing resulting in the skipping of exon 7 (PMID: 15459303). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FAS are known to be pathogenic (PMID: 10875918, 22237435). For these reasons, this variant has been classified as Pathogenic.

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