ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.799-17G>A

dbSNP: rs72650675
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490521 SCV001695089 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664900 SCV001879536 likely benign not specified 2021-01-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001664900 SCV002500199 uncertain significance not specified 2022-03-08 criteria provided, single submitter clinical testing Variant summary: AIRE c.799-17G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00075 in 239968 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in AIRE causing Autoimmune Polyglandular Syndrome Type 1 (0.00075 vs 0.0028), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.799-17G>A in individuals affected with Autoimmune Polyglandular Syndrome Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729922 SCV001977955 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729922 SCV001979589 likely benign not provided no assertion criteria provided clinical testing

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