Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658414 | SCV000780186 | likely pathogenic | not provided | 2018-05-22 | criteria provided, single submitter | clinical testing | The N701K variant has been reported in a patient with Niemann-Pick disease, type C who also had a second pathogenic variant in the NPC1 gene (Cologna et al. 2012). The N701K variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, we interpret this variant as likely pathogenic. |