ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.463+2T>C (rs786204478)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169131 SCV000220341 likely pathogenic Polyglandular autoimmune syndrome, type 1 2014-05-21 criteria provided, single submitter literature only
GeneDx RCV000413548 SCV000490397 pathogenic not provided 2016-12-08 criteria provided, single submitter clinical testing The c.463+2 T>C splice site variant has been previously reported in association with APECED (Wang et al., 1998; Dominguez et al., 2006). This pathogenic variant destroys the canonical splice donor site in intron 3, and is expected to cause abnormal gene splicing. While the adjacent exon 3 remains in-frame as a result of this splice change, exon 3 partially lies within the HSR domain, which is critical for proper protein function (Ramsey et al., 2002). Additionally, the variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic.

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