ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1118C>T (p.Ala373Val)

gnomAD frequency: 0.00068  dbSNP: rs79212994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970746 SCV001118342 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420757 SCV001623103 uncertain significance not specified 2021-04-26 criteria provided, single submitter clinical testing Variant summary: AIRE c.1118C>T (p.Ala373Val) results in a non-conservative amino acid change located in the PRR domain (Suspitsin_2020) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00061 in 279934 control chromosomes in the gnomAD database, including one homozygote. This frequency is not higher than expected for a pathogenic variant in AIRE causing Autoimmune Polyglandular Syndrome Type 1 (0.00061 vs 0.0028), allowing no conclusion about variant significance. c.1118C>T has been reported in the literature in one individual affected with chronic mucocutaneous candidiasis (Suspitsin_2020). The report does not provide unequivocal conclusions about association of the variant with Autoimmune Polyglandular Syndrome Type 1. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000970746 SCV001464220 likely benign Polyglandular autoimmune syndrome, type 1 2020-04-29 no assertion criteria provided clinical testing

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