ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter)

dbSNP: rs2058949363
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231538 SCV001404064 pathogenic Niemann-Pick disease, type C1 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln421*) 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 premature translational stop signal has been observed in individual(s) with Niemann–Pick type C disease (PMID: 16126423). ClinVar contains an entry for this variant (Variation ID: 958381). For these reasons, this variant has been classified as Pathogenic.

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