Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Genetics, |
RCV000735435 | SCV000854643 | pathogenic | Neuronal ceroid lipofuscinosis 2 | criteria provided, single submitter | clinical testing | Found a homozygous mutation g.3090G>C (IVS4+5G>A) in the CLN2 gene. The IVS4+5 position was completely replaced with the mutation, with no normal DNA. The IVS4+5G>A mutation is not in the CLN2 mutation database (URL: http://www.ucl.ac.uk/ncl/cln2.shtml). However, it is very likely that this mutation is the cause of disease due to abnormal splicing as it is predicted to destroy the splice donor site by the splicing prediction program at URL http://www.fruitfly.org/seq_tools/splice.html. | |
Mendelics | RCV000988484 | SCV001138226 | likely pathogenic | Neuronal ceroid lipofuscinosis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Suma Genomics | RCV000735435 | SCV003762226 | likely pathogenic | Neuronal ceroid lipofuscinosis 2 | criteria provided, single submitter | clinical testing |