ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.528G>A (p.Trp176Ter)

dbSNP: rs866771343
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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 RCV001949292 SCV002246431 pathogenic Autoimmune lymphoproliferative syndrome type 1 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp176*) 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). 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: 22237435). ClinVar contains an entry for this variant (Variation ID: 1457614). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003401971 SCV004121506 pathogenic FAS-related disorder 2022-09-07 criteria provided, single submitter clinical testing The FAS c.528G>A variant is predicted to result in premature protein termination (p.Trp176*). This variant was reported in an individual with autoimmune lymphoproliferative syndrome (Hsu et al. 2011 Table 1 PubMed ID: 22237435). In vitro functional studies show that this variant results in reduced expression of a truncated protein that did not anchor on the cell surface (Kuehn et al. 2011 PubMed ID: 21490157). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in FAS are expected to be pathogenic. This variant is interpreted as pathogenic.

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