ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2196dup (p.Pro733fs) (rs398123284)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790754 SCV000226009 pathogenic not provided 2012-07-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000174669 SCV000596046 pathogenic Niemann-Pick disease type C1 2016-03-21 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000174669 SCV001149857 pathogenic Niemann-Pick disease type C1 2019-02-21 criteria provided, single submitter clinical testing
Invitae RCV000174669 SCV001225308 pathogenic Niemann-Pick disease type C1 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro733Serfs*10) in the NPC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs398123284, ExAC 0.002%). This variant has been observed in individual(s) with Niemann-Pick disease type C (PMID: 27250337). ClinVar contains an entry for this variant (Variation ID: 92706). Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000174669 SCV000486819 pathogenic Niemann-Pick disease type C1 2016-08-18 no assertion criteria provided clinical testing

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