ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1095+5G>T

gnomAD frequency: 0.00001  dbSNP: rs1057522692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443139 SCV000528986 uncertain significance not provided 2019-12-06 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001833545 SCV003517023 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-03-04 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the AIRE gene. It does not directly change the encoded amino acid sequence of the AIRE protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 387103). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001833545 SCV002083895 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-08-03 no assertion criteria provided clinical testing

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