ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.881del (p.Thr293_Leu294insTer)

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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 RCV003037353 SCV003439554 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu294*) in the FAS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the FAS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autoimmune lymphoproliferative syndrome (PMID: 1090885, 23407489). This variant is also known as APT1 c.1074delT. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects FAS function (PMID: 10090885, 21490157). For these reasons, this variant has been classified as Pathogenic.

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