ClinVar Miner

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

dbSNP: rs775915490
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Total submissions: 4
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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 2022-04-30 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. Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553225). 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
Fulgent Genetics, Fulgent Genetics RCV000668626 SCV002809750 likely pathogenic Niemann-Pick disease, type C1 2021-08-14 criteria provided, single submitter clinical testing

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