Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV001004989 | SCV001164543 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2018-12-03 | criteria provided, single submitter | research | The homozygous p.Gly93Ala variant in SGCB was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies and computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly93Ala variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015). |
Revvity Omics, |
RCV001004989 | SCV004238651 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-10-02 | criteria provided, single submitter | clinical testing |