Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049428 | SCV001213477 | pathogenic | Neuronal ceroid lipofuscinosis 1 | 2019-02-11 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the PPT1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exon 2 has been observed in individuals affected with neuronal ceroid-lipofuscinosis (PMID: 19302939, 23374165). Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943). For these reasons, this variant has been classified as Pathogenic. |