Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001854478 | SCV002238040 | pathogenic | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 | 2021-10-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr382Asnfs*32) in the GRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GRN are known to be pathogenic (PMID: 16862116, 16950801, 22608501). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 98169). This variant is also known as c.1145insA (p.Thr382AsnfsX31). This premature translational stop signal has been observed in individual(s) with frontotemporal dementia (PMID: 17620546). It has also been observed to segregate with disease in related individuals. |
OMIM | RCV000017389 | SCV000037661 | pathogenic | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 2007-07-10 | no assertion criteria provided | literature only | |
VIB Department of Molecular Genetics, |
RCV000084472 | SCV000116608 | not provided | not provided | no assertion provided | not provided |