ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.817C>T (p.Gln273Ter)

dbSNP: rs121913077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071386 SCV001236689 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-12-08 criteria provided, single submitter clinical testing Experimental studies have shown that this premature translational stop signal affects FAS function (PMID: 7540117). This sequence change creates a premature translational stop signal (p.Gln273*) in the FAS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 63 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: 7540117). This variant is also known as C1011T (Glu257*). ClinVar contains an entry for this variant (Variation ID: 16501). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This variant disrupts a region of the FAS protein in which other variant(s) (p.L294*) 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. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000017965 SCV000038244 pathogenic Autoimmune lymphoproliferative syndrome, type 1a 1995-06-16 no assertion criteria provided literature only

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