ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.506-16A>G

dbSNP: rs2133529359
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002006613 SCV002293332 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-07-06 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the FAS gene. It does not directly change the encoded amino acid sequence of the FAS protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of autoimmune lymphoproliferative syndrome (PMID: 22237435, 28668589; Invitae). ClinVar contains an entry for this variant (Variation ID: 1506283). Studies have shown that this variant results in skipping of exon 6, but is expected to preserve the integrity of the reading-frame (PMID: 22237435, 28668589). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.