ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.816del (p.Glu272fs)

dbSNP: rs2119446366
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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 RCV001878381 SCV002125871 pathogenic Autoimmune lymphoproliferative syndrome type 1 2021-09-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FAS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu272Aspfs*23) in the FAS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 64 amino acid(s) of the FAS protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FAS protein in which other variant(s) (p.Leu294*) have been determined to be pathogenic (PMID: 10090885, 21490157, 23407489). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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