ClinVar Miner

Submissions for variant NM_015967.8(PTPN22):c.1894+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337966 SCV004048437 uncertain significance Rheumatoid arthritis criteria provided, single submitter clinical testing The splice site c.1894+2T>C variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is reported with the allele frequency of 0.0009044% in gnomAD and is novel (not in any individuals) in 1000 Genomes. The nucleotide change in PTPN22 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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