ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486329 SCV004238312 likely pathogenic Niemann-Pick disease, type C1 2023-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003486329 SCV004452539 pathogenic Niemann-Pick disease, type C1 2023-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu1166*) 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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