Submissions for variant NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)

dbSNP: rs1057517241

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000411349	SCV000486967	likely pathogenic	Polyglandular autoimmune syndrome, type 1	2016-09-13	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000518804	SCV000612310	pathogenic	not provided	2016-10-25	criteria provided, single submitter	clinical testing
Invitae	RCV000411349	SCV002111566	pathogenic	Polyglandular autoimmune syndrome, type 1	2023-06-11	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 371397). This premature translational stop signal has been observed in individual(s) with autosomal recessive autoimmune polyendocrinopathy syndrome (PMID: 9888391). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln173*) 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).
CeGaT Center for Human Genetics Tuebingen	RCV000518804	SCV002544677	pathogenic	not provided	2022-05-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000411349	SCV002083859	pathogenic	Polyglandular autoimmune syndrome, type 1	2021-09-22	no assertion criteria provided	clinical testing