ClinVar Miner

Submissions for variant NM_000271.4(NPC1):c.2213C>A (rs777286835)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666499 SCV000790804 pathogenic Niemann-Pick disease type C1 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000666499 SCV001390108 pathogenic Niemann-Pick disease type C1 2019-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser738*) in the NPC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777286835, ExAC 0.01%). This variant has been observed in multiple individuals affected with Niemann-Pick disease type C (PMID: 15774455; 25326637, 12955717). ClinVar contains an entry for this variant (Variation ID: 242482). Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). For these reasons, this variant has been classified as Pathogenic.

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