ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter) (rs775629081)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598343 SCV000703027 pathogenic not provided 2016-10-25 criteria provided, single submitter clinical testing
Invitae RCV001237106 SCV001409857 pathogenic Niemann-Pick disease type C1 2019-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln407*) in the NPC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775629081, ExAC 0.001%). This variant has not been reported in the literature in individuals with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 498154). Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). For these reasons, this variant has been classified as Pathogenic.

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