ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1095+2T>C

gnomAD frequency: 0.00009  dbSNP: rs760280615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800815 SCV000940551 pathogenic Polyglandular autoimmune syndrome, type 1 2023-12-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 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 present in population databases (rs760280615, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with autosomal recessive autoimmune polyendocrinopathy syndrome (PMID: 27105486, 31420020). ClinVar contains an entry for this variant (Variation ID: 646517). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000800815 SCV002811596 likely pathogenic Polyglandular autoimmune syndrome, type 1 2021-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000800815 SCV001457182 likely pathogenic Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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