ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)

gnomAD frequency: 0.00022  dbSNP: rs148012328
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586806 SCV000696654 uncertain significance not provided 2017-03-06 criteria provided, single submitter clinical testing Variant summary: The AIRE c.589G>A (p.Gly197Arg) variant located in the SAND domain (via InterPro) involves the alteration of a non-conserved nucleotide, which 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 13/120306 (1/9250), predominantly in the African cohort, 11/10266 (1/933), which does not exceed the estimated maximal expected allele frequency for a pathogenic AIRE variant of 1/357. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Labcorp Genetics (formerly Invitae), Labcorp RCV001834836 SCV003292336 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834836 SCV002083862 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-02-19 no assertion criteria provided clinical testing

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