ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1400+1G>A

dbSNP: rs1469386000
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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 RCV002017463 SCV002291960 likely pathogenic Polyglandular autoimmune syndrome, type 1 2021-03-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of autosomal recessive AIRE-related conditions (PMID: 11524731). This variant is also known as IVS11+1G>A. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 11 of the AIRE gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571).

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