ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.972_979del (p.Ser324fs) (rs778232650)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169200 SCV000220449 likely pathogenic Ceroid lipofuscinosis neuronal 2 2014-06-23 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169200 SCV001339059 pathogenic Ceroid lipofuscinosis neuronal 2 2020-03-20 criteria provided, single submitter clinical testing Variant summary: TPP1 c.972_979delCTATGGAG (p.Ser324ArgfsX2) 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. The variant allele was found at a frequency of 4e-06 in 251378 control chromosomes (gnomAD). c.972_979delCTATGGAG has been reported in the literature in individuals affected with Late-infantile Neuronal Ceroid-Lipofuscinoses (Sleat_1999). These data indicate that the variant may be associated with disease. At least one publication reports this variant has an impact on protein function and results in <10% of normal TPP1 activity. 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.

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