ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2179del (p.Val727fs)

dbSNP: rs2145394955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881855 SCV002148247 pathogenic Niemann-Pick disease, type C1 2021-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val727Serfs*2) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with NPC1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001881855 SCV002776627 likely pathogenic Niemann-Pick disease, type C1 2021-12-08 criteria provided, single submitter clinical testing

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