Submissions for variant NM_000383.4(AIRE):c.789del (p.Ala264fs)

gnomAD frequency: 0.00001  dbSNP: rs387906295

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001047339	SCV001211289	pathogenic	Polyglandular autoimmune syndrome, type 1	2023-08-09	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3315). This premature translational stop signal has been observed in individual(s) with autoimmune polyendocrinopathy syndrome (PMID: 14557425). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala264Leufs*114) 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).
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	RCV001047339	SCV004036201	pathogenic	Polyglandular autoimmune syndrome, type 1	2023-09-14	criteria provided, single submitter	clinical testing
OMIM	RCV000003479	SCV000023637	pathogenic	Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia	2003-10-01	no assertion criteria provided	literature only