Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544945 | SCV000640459 | likely pathogenic | Neuronal ceroid lipofuscinosis 1 | 2018-10-11 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 of the PPT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a PPT1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. |
Counsyl | RCV000544945 | SCV001132477 | likely pathogenic | Neuronal ceroid lipofuscinosis 1 | 2016-12-20 | no assertion criteria provided | clinical testing |