ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) (rs386833668)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000049628 SCV001361116 pathogenic Neuronal ceroid lipofuscinosis 1 2019-05-02 criteria provided, single submitter clinical testing Variant summary: PPT1 c.871C>T (p.Gln291X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position (p.W296X) has been reported in a patient (PMID: 9664077). The variant was absent in 251410 control chromosomes (gnomAD). c.871C>T has been reported in the literature in a compound heterozygote individual affected with Neuronal Ceroid-Lipofuscinosis (Batten Disease), who had another truncating variant in trans (Waliany 2000). This patient had undetectable enzyme activity, and disease specific electronmicroscopic findings (Waliany 2000). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049628 SCV000082035 probable-pathogenic Neuronal ceroid lipofuscinosis 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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