Submissions for variant NM_000383.4(AIRE):c.868del (p.Gln290fs)

dbSNP: rs2146379725

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001904436	SCV002124469	pathogenic	Polyglandular autoimmune syndrome, type 1	2021-08-14	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln290Serfs*88) 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).
Myriad Genetics, Inc.	RCV001904436	SCV002602223	likely pathogenic	Polyglandular autoimmune syndrome, type 1	2021-12-21	criteria provided, single submitter	clinical testing	NM_000383.3(AIRE):c.868delC(Q290Sfs*88) is expected to be pathogenic in the context of autoimmune polyglandular syndrome type 1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in AIRE, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.