ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001174732 SCV001338021 pathogenic Niemann-Pick disease, type C 2020-01-06 criteria provided, single submitter clinical testing Variant summary: NPC1 c.2800C>T (p.Arg934X) 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 was absent in 248426 control chromosomes (gnomAD). c.2800C>T has been reported in the literature in multiple individuals affected with Niemann-Pick Disease Type C (e.g. Fancello_2009, Heron_2012). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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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