ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1401-11C>T

gnomAD frequency: 0.00444  dbSNP: rs371136111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518736 SCV000612307 benign not specified 2017-05-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000518736 SCV001338563 benign not specified 2020-04-03 criteria provided, single submitter clinical testing Variant summary: AIRE c.1401-11C>T 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 0.0032 in 197100 control chromosomes in the gnomAD database, including 6 homozygotes. The observed variant frequency is approximately equal to the estimated maximal expected allele frequency for a pathogenic variant in AIRE causing Autoimmune Polyglandular Syndrome Type 1 phenotype (0.0028), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.1401-11C>T in individuals affected with Autoimmune Polyglandular Syndrome Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511668 SCV001718950 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing

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