ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.136A>T (p.Thr46Ser)

dbSNP: rs2146375707
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002250913 SCV002521115 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.70; 3Cnet: 0.22). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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