ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)

gnomAD frequency: 0.00006  dbSNP: rs201491251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802811 SCV000942656 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000802811 SCV002793818 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411766 SCV004113289 uncertain significance AIRE-related disorder 2022-11-23 criteria provided, single submitter clinical testing The AIRE c.1169C>T variant is predicted to result in the amino acid substitution p.Thr390Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-45712949-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000802811 SCV002083899 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-02-21 no assertion criteria provided clinical testing

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