ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)

gnomAD frequency: 0.00001  dbSNP: rs763695515
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710494 SCV000840728 likely pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001045056 SCV001208885 pathogenic Polyglandular autoimmune syndrome, type 1 2022-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 585381). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This variant is present in population databases (rs763695515, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg433Alafs*71) 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).
GeneDx RCV000710494 SCV002762029 likely pathogenic not provided 2022-06-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001045056 SCV002786826 likely pathogenic Polyglandular autoimmune syndrome, type 1 2022-02-07 criteria provided, single submitter clinical testing

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