Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV004548868 | SCV004710158 | likely pathogenic | GRN-related disorder | 2024-02-13 | no assertion criteria provided | clinical testing | The GRN c.900_901dupGT variant is predicted to result in a frameshift and premature protein termination (p.Ser301Cysfs*61). This variant was reported in an individual with corticobasal degeneration syndrome and in an individual with behavioural-variant frontotemporal dementia (Almeida et al. 2013. PubMed ID: 24022032). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in GRN are expected to be pathogenic and protein-truncating variants upstream and downstream of this variant have been previously reported (HGMD, ClinVar). This variant is interpreted as likely pathogenic. |