ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.463+6C>G

dbSNP: rs2146376456
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001904829 SCV002118303 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-09-12 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1360317). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the AIRE gene. It does not directly change the encoded amino acid sequence of the AIRE protein. It affects a nucleotide within the consensus splice site.

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