ClinVar Miner

Submissions for variant NM_000271.4(NPC1):c.3243_3755-94del

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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 RCV000781672 SCV000919896 likely pathogenic Niemann-Pick disease, type C 2018-02-02 criteria provided, single submitter clinical testing Variant summary: NPC1 c.3243_3755-94del is a large deletion spanning exons 21-24 in the NPC1 gene, which results in a frameshift change in the NPC1 gene, a known mechanism of disease. The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, gnomAD, ESP, 1000G) cannot detect variants of this type. To our knowledge, no occurrence of c.3243_3755-94del in individuals affected with Niemann-Pick Disease Type C and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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