ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.259G>T (p.Glu87Ter)

dbSNP: rs2133503091
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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 RCV001993142 SCV002231697 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1451181). This variant has not been reported in the literature in individuals affected with FAS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu87*) in the FAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAS are known to be pathogenic (PMID: 10875918, 22237435).

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