ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.346C>T (p.Arg116Ter)

dbSNP: rs144973225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092830 SCV001249527 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386168 SCV001586306 pathogenic Niemann-Pick disease, type C1 2023-05-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 872388). This premature translational stop signal has been observed in individual(s) with Niemann-Pick disease type C (PMID: 12408188, 27581084). This variant is present in population databases (rs144973225, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg116*) 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).
Solve-RD Consortium RCV001386168 SCV005091331 likely pathogenic Niemann-Pick disease, type C1 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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