Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265626 | SCV002548426 | likely pathogenic | Spinocerebellar ataxia type 28 | 2022-05-03 | criteria provided, single submitter | clinical testing | Variant summary: AFG3L2 c.1875G>A (p.Met625Ile) results in a conservative amino acid change located in the Peptidase M41 domain (IPR000642) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251482 control chromosomes (gnomAD). c.1875G>A has been reported in the literature in two unrelated homozygous individuals affected with Progressive Myoclonus Epilepsy (Muona_2015). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed this variant since 2014: the variant was classified as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Revvity Omics, |
RCV003144139 | SCV003831120 | likely pathogenic | not provided | 2021-12-22 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000149914 | SCV000196765 | pathogenic | Spastic ataxia 5 | 2015-01-01 | no assertion criteria provided | literature only | |
| Undiagnosed Diseases Network, |
RCV000149914 | SCV002818548 | uncertain significance | Spastic ataxia 5 | 2022-08-03 | no assertion criteria provided | clinical testing |