ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.307+2T>G

dbSNP: rs2146375964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377282 SCV001574570 likely pathogenic Polyglandular autoimmune syndrome, type 1 2023-10-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1066316). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Natera, Inc. RCV001377282 SCV002083850 likely pathogenic Polyglandular autoimmune syndrome, type 1 2020-01-31 no assertion criteria provided clinical testing

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