ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup)

dbSNP: rs1481102287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667436 SCV000791879 uncertain significance Polyglandular autoimmune syndrome, type 1 2017-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667436 SCV003484656 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-09-13 criteria provided, single submitter clinical testing This variant, c.1054_1068dup, results in the insertion of 5 amino acid(s) of the AIRE protein (p.Ala352_Arg356dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 552213). 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.

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