ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.748C>T (p.Arg250Ter)

dbSNP: rs778993919
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988433 SCV001138149 pathogenic Autoimmune lymphoproliferative syndrome type 1 2019-05-28 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027571 SCV001190141 pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
Genomics Facility, Ludwig-Maximilians-Universität München RCV000988433 SCV002073912 likely pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-01-11 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252283 SCV002523886 likely pathogenic See cases 2020-11-12 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS3, PS4, PM2
CeGaT Center for Human Genetics Tuebingen RCV002275198 SCV002563028 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000988433 SCV003439552 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg250*) in the FAS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acid(s) of the FAS protein. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 802620). This variant is also known as p.R348X. This premature translational stop signal has been observed in individual(s) with autoimmune lymphoproliferative syndrome and/or clinical features of FAS-related conditions (PMID: 18948840, 21490157, 32499645). This variant is not present in population databases (gnomAD no frequency).

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