ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003605389 SCV004460492 pathogenic Niemann-Pick disease, type C1 2023-04-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NPC1-related conditions. This sequence change creates a premature translational stop signal (p.Gln811*) 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).

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