Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000813174 | SCV000953519 | pathogenic | Spastic paraplegia | 2022-11-15 | criteria provided, single submitter | clinical testing | 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.Gly433Argfs*59) have been determined to be pathogenic (PMID: 27057822). 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: 656694). This frameshift has been observed in individual(s) with clinical features of Pelizaeus-Merzbacher disease (PMID: 34055681). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the GJC2 gene (p.Ala379Glyfs*109). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the GJC2 protein and extend the protein by 47 additional amino acid residues. |
| Mendelics | RCV000986563 | SCV001135582 | likely pathogenic | Hypomyelinating leukodystrophy 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001335054 | SCV001528094 | pathogenic | Hereditary spastic paraplegia 44 | 2018-02-08 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV000986563 | SCV002512609 | likely pathogenic | Hypomyelinating leukodystrophy 2 | 2021-12-16 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 supporting, PM2 moderate, PM4 strong |