Total submissions: 1
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. |