ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.489dup (p.Lys164fs)

dbSNP: rs746101086
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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 RCV000822439 SCV000963240 pathogenic Polyglandular autoimmune syndrome, type 1 2023-04-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs746101086, gnomAD 0.009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664355). This premature translational stop signal has been observed in individual(s) with autosomal recessive autoimmune polyendocrinopathy syndrome (PMID: 25064028). This sequence change creates a premature translational stop signal (p.Lys164Glnfs*53) 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).

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