ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter)

gnomAD frequency: 0.00007  dbSNP: rs933245871
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001723462 SCV003837012 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing Nonsense 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; Has not been previously published as pathogenic or benign to our knowledge
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796652 SCV005416834 likely pathogenic Autosomal recessive nonsyndromic hearing loss 84A criteria provided, single submitter clinical testing PM2_Supporting+PVS1
Institute of Rare Diseases, West China Hospital, Sichuan University RCV004796652 SCV005687307 pathogenic Autosomal recessive nonsyndromic hearing loss 84A 2025-01-09 criteria provided, single submitter research PVS1;PM3_Supporting;PM2_Supporting
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723462 SCV001958710 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723462 SCV001975030 pathogenic not provided no assertion criteria provided clinical testing

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