ClinVar Miner

Submissions for variant NM_015967.8(PTPN22):c.2183C>T (p.Thr728Ile)

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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 RCV005402287 SCV006059755 uncertain significance Diabetes mellitus type 1 2025-04-24 criteria provided, single submitter clinical testing A heterozygous missense variant in exon 18 of the PTPN22 gene that results in an amino acid substitution of Isoleucine for Threonine at codon 728 was detected. The observed variant c.2183C>T (p.Thr728Ile) has not been reported in the 1000 genomes but has a MAF of 0.0006% in the gnomAD databases. The in-silico prediction of the variant is disease causing by MutationTaster2. In summary, the variant meets our criteria to be classified as the variant of uncertain significance.

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