ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2823del (p.Trp942fs)

dbSNP: rs2145370732
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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 RCV001388166 SCV001589037 pathogenic Niemann-Pick disease, type C1 2020-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). This variant has not been reported in the literature in individuals with NPC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp942Glyfs*9) in the NPC1 gene. It is expected to result in an absent or disrupted protein product.

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