ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.38del (p.Thr13fs)

dbSNP: rs1842954041
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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 RCV001055690 SCV001220090 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-02-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FAS-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 851315). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr13Serfs*15) 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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