ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3042-1G>A

dbSNP: rs771806960
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667939 SCV000792467 likely pathogenic Niemann-Pick disease, type C1 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000667939 SCV001235157 likely pathogenic Niemann-Pick disease, type C1 2022-11-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 552643). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 20 of the NPC1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850).
Natera, Inc. RCV000667939 SCV002095173 likely pathogenic Niemann-Pick disease, type C1 2021-06-28 no assertion criteria provided clinical testing

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