ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.205C>T (p.Gln69Ter)

dbSNP: rs2146375836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960703 SCV002233106 pathogenic Polyglandular autoimmune syndrome, type 1 2022-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln69*) in the AIRE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypoparathyroidism (PMID: 31433868). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004754818 SCV005354330 pathogenic AIRE-related disorder 2024-05-22 no assertion criteria provided clinical testing The AIRE c.205C>T variant is predicted to result in premature protein termination (p.Gln69*). This variant has been reported in an individual with hypoparathyroidism (Table 1, Wang et al. 2019. PubMed ID: 31433868). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in AIRE are expected to be pathogenic. This variant is interpreted as pathogenic.

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