ClinVar Miner

Submissions for variant NC_000018.9:g.(?_21132700)_(21141511_?)del

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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 RCV004579823 SCV005063822 pathogenic Niemann-Pick disease, type C1 2023-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NPC1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5-9 of the NPC1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850).

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