Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ege University Pediatric Genetics, |
RCV000790418 | SCV000925656 | likely pathogenic | Pelizaeus-Merzbacher disease | 2019-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002536883 | SCV003455825 | pathogenic | Spastic paraplegia | 2022-02-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GJC2 protein in which other variant(s) (p.Arg240*) have been determined to be pathogenic (PMID: 15192806; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 635342). This premature translational stop signal has been observed in individual(s) with Pelizaeus-Merzbacher disease (PMID: 31319225). This sequence change creates a premature translational stop signal (p.His198Thrfs*66) in the GJC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 242 amino acid(s) of the GJC2 protein. |