ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs121434258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666118 SCV000790361 likely pathogenic Polyglandular autoimmune syndrome, type 1 2017-03-16 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027543 SCV001190113 pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
Invitae RCV000666118 SCV001591354 pathogenic Polyglandular autoimmune syndrome, type 1 2021-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individual(s) with autosomal recessive autoimmune polyendocrinopathy syndrome (PMID: 19758376, 28446514, 28911151,16965330). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 551136). While this variant is present in population databases (rs121434258), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change affects the initiator methionine of the AIRE mRNA. The next in-frame methionine is located at codon 184.

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