ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3477+1G>A

dbSNP: rs1405889589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224030 SCV001396205 pathogenic Niemann-Pick disease, type C1 2019-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). This variant has been observed in combination with another NPC1 variant in an individual affected with Niemann-Pick disease type C (PMID: 16126423). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 22 of the NPC1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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