Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049316 | SCV001213361 | pathogenic | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 | 2019-11-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GRN are known to be pathogenic (PMID: 22608501). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16950801). This variant has been observed in individual(s) with frontotemporal dementia (PMID: 16950801, 22366795). ClinVar contains an entry for this variant (Variation ID: 98126). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 2 of the GRN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
VIB Department of Molecular Genetics, |
RCV000084428 | SCV000116564 | not provided | not provided | no assertion provided | not provided |