ClinVar Miner

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

dbSNP: rs1564696849
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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 RCV000805931 SCV000945906 pathogenic Autoimmune lymphoproliferative syndrome type 1 2018-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). Other variants resulting in disruption of this splice site have been observed in individuals affected with autoimmune lymphoproliferative syndrome (PMID: 15459303, 22237435). This variant is not present in population databases (ExAC no frequency). 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 has not been reported in the literature in individuals with FAS-related disease.

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