ClinVar Miner

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

dbSNP: rs2133529359
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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 RCV002006613 SCV002293332 pathogenic Autoimmune lymphoproliferative syndrome type 1 2022-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). ClinVar contains an entry for this variant (Variation ID: 1506283). This variant has been observed in individual(s) with clinical features of autoimmune lymphoproliferative syndrome (PMID: 22237435, 28668589; Invitae). This variant is not present in population databases (gnomAD no frequency). 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.

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