ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.156G>A (p.Lys52=)

gnomAD frequency: 0.00005  dbSNP: rs144396624
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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 RCV000912872 SCV001057998 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-15 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000912872 SCV002495748 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-03-02 criteria provided, single submitter clinical testing AIRE NM_000383.2 exon 2 p.Lys52= (c.156G>A): This variant has not been reported in the literature but is present in 0.01% (8/41244) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/21-44286580-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:737139). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Natera, Inc. RCV000912872 SCV001460093 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-02-13 no assertion criteria provided clinical testing

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