ClinVar Miner

Submissions for variant NM_015967.8(PTPN22):c.1686_1687delinsAA (p.Phe562_Pro563delinsLeuThr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV005402347 SCV006059945 uncertain significance Diabetes mellitus type 1 2025-04-24 criteria provided, single submitter clinical testing A heterozygous two base pair deletion in exon 13 of the PTPN22 gene (chr1:g.113837713GA>TT;Depth: 104x) that results in deletion of Phenylalanine and Proline at codon 562 and 563 and insertion of Leucine and Threonine (p.Phe562_Pro563delinsLeuThr; ENST00000359785.10) was detected. This variant has not been reported in the 1000 genomes and gnomAD databases. The in-silico prediction of the variant is disease causing by MutationTaster2. The reference region is conserved across species. In summary, the variant meets our criteria to be classified as the variant of uncertain significance.

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