ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer)

dbSNP: rs1848019699
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092602 SCV001249167 pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing FAS: PVS1, PM2, PS3:Moderate, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001856272 SCV002174947 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-08-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 872242). This premature translational stop signal has been observed in individual(s) with autoimmune lymphoproliferative syndrome (PMID: 21490157, 22237435). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala16*) 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).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001092602 SCV004026297 pathogenic not provided 2023-03-28 criteria provided, single submitter clinical testing

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