Submissions for variant NM_000383.4(AIRE):c.328del (p.Arg110fs)

dbSNP: rs1162316051

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000668550	SCV000793171	likely pathogenic	Polyglandular autoimmune syndrome, type 1	2017-07-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000668550	SCV002241300	pathogenic	Polyglandular autoimmune syndrome, type 1	2024-03-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg110Glyfs*37) 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 present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autoimmune polyendocrinopathy syndrome (PMID: 24948345). ClinVar contains an entry for this variant (Variation ID: 553161). For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics	RCV002223902	SCV002503332	pathogenic	not provided	2021-06-23	criteria provided, single submitter	clinical testing
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	RCV000668550	SCV004036198	pathogenic	Polyglandular autoimmune syndrome, type 1	2023-09-14	criteria provided, single submitter	clinical testing