ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.260del (p.Leu87fs)

dbSNP: rs1057517428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409889 SCV000487269 likely pathogenic Polyglandular autoimmune syndrome, type 1 2016-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409889 SCV004539198 pathogenic Polyglandular autoimmune syndrome, type 1 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu87Argfs*60) 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 variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 371637). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV004546489 SCV005041094 pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing AIRE: PVS1, PM2

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