ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) (rs80358263)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000020644 SCV001412690 pathogenic Niemann-Pick disease, type C2 2019-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys47*) in the NPC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Niemann-Pick Type C (PMID: 15937921, 28095804). ClinVar contains an entry for this variant (Variation ID: 21456). Loss-of-function variants in NPC2 are known to be pathogenic (PMID: 25145893). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020644 SCV000041167 pathologic Niemann-Pick disease, type C2 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000020644 SCV000272928 pathogenic Niemann-Pick disease, type C2 2014-06-25 no assertion criteria provided research

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