Submissions for variant NM_000383.4(AIRE):c.1193del (p.Pro398fs)

dbSNP: rs1555872988

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000666828	SCV000791186	pathogenic	Polyglandular autoimmune syndrome, type 1	2017-05-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000666828	SCV002243921	pathogenic	Polyglandular autoimmune syndrome, type 1	2023-12-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Pro398Argfs*82) 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 premature translational stop signal has been observed in individual(s) with autosomal recessive autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia (PMID: 9398840, 10677297, 26114819). This variant is also known as 1313delC. ClinVar contains an entry for this variant (Variation ID: 551697). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000666828	SCV003924326	pathogenic	Polyglandular autoimmune syndrome, type 1	2023-05-08	criteria provided, single submitter	research