ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2978dup (p.Asp994fs) (rs775915490)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668626 SCV000793260 likely pathogenic Niemann-Pick disease type C1 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV000668626 SCV001381544 pathogenic Niemann-Pick disease type C1 2019-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp994Argfs*13) in the NPC1 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 not been reported in the literature in individuals with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553225). Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). For these reasons, this variant has been classified as Pathogenic.
Centogene AG - the Rare Disease Company RCV000668626 SCV001424465 pathogenic Niemann-Pick disease type C1 criteria provided, single submitter clinical testing

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