ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup)

dbSNP: rs2040477781
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321645 SCV001512482 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-10-26 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with clinical features of autoimmune polyendocrinopathy syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant, c.46_63dup, results in the insertion of 6 amino acid(s) to the AIRE protein (p.Thr16_Ala21dup), but otherwise preserves the integrity of the reading frame.

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