ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter)

gnomAD frequency: 0.00003  dbSNP: rs1445287184
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626765 SCV000747468 pathogenic Hearing impairment; Unsteady gait; Pes planus; Pes cavus; Impaired vibration sensation in the lower limbs; Loss of ambulation; Pain 2017-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090820 SCV001246559 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001090820 SCV001480110 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001090820 SCV002027966 pathogenic not provided 2021-06-01 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; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 23208854, 32860223)

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