ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1084del (p.Val362fs)

dbSNP: rs1057517254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410507 SCV000486992 likely pathogenic Polyglandular autoimmune syndrome, type 1 2016-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410507 SCV001588596 pathogenic Polyglandular autoimmune syndrome, type 1 2020-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571). This variant has not been reported in the literature in individuals with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 371416). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val362Trpfs*16) in the AIRE gene. It is expected to result in an absent or disrupted protein product.

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