ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1243C>T (p.His415Tyr)

gnomAD frequency: 0.00001  dbSNP: rs752398254
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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 RCV000802704 SCV000942546 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 415 of the AIRE protein (p.His415Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with AIRE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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