ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.676+1G>T

dbSNP: rs1589488640
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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 RCV001382234 SCV001580909 pathogenic Autoimmune lymphoproliferative syndrome type 1 2020-08-26 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with autoimmune lymphoproliferative syndrome (PMID: 22237435, 10515860). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in the last intron (intron 8) of the FAS gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 10515860, 22237435).

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