Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000084584 | SCV000613580 | pathogenic | not provided | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000995782 | SCV001150129 | pathogenic | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | 2018-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001064002 | SCV001228874 | pathogenic | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 2019-05-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser226Trpfs*28) in the GRN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with frontotemporal dementia (PMID: 16950801, 17698705, 20142524, 21482928) and primary progressive aphasia (PMID: 26791154). ClinVar contains an entry for this variant (Variation ID: 98246). Loss-of-function variants in GRN are known to be pathogenic (PMID: 16862116, 16950801, 22608501). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV000084584 | SCV001250431 | pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000017391 | SCV000037663 | pathogenic | Primary progressive aphasia | 2007-09-11 | no assertion criteria provided | literature only | |
VIB Department of Molecular Genetics, |
RCV000084584 | SCV000116720 | not provided | not provided | no assertion provided | not provided |