ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1265del (p.Pro422fs) (rs764878471)

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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 Inc RCV000255362 SCV000840727 pathogenic not provided 2018-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000255362 SCV000322390 pathogenic not provided 2016-08-04 criteria provided, single submitter clinical testing The c.1265delC pathogenic variant in the AIRE gene has been reported previously in a patient with autoimmune polyendocrinopathy syndrome type 1; however, no additional variant was identified in that patient (Heino et al., 1999). The deletion causes a frameshift starting with codon Proline 422, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 58 of the new reading frame, denoted p.Pro422LeufsX58. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we consider this variant to be pathogenic.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000515133 SCV000609491 pathogenic Polyglandular autoimmune syndrome, type 1 2017-10-31 criteria provided, single submitter clinical testing The c.1265delC; p.Pro422LeufsTer58 variant has been reported previously in a patient with autoimmune polyendocrinopathy syndrome type 1 (AIRE); however, no additional variant was identified in that patient (Heino et al., 1999). The deletion causes a frameshift starting with codon Proline 422, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 58 of the new reading frame, denoted p.Pro422LeufsX58. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we consider this variant to be pathogenic.

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