Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Institute Rare Disease Group, |
RCV001004977 | SCV001164519 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2018-12-03 | criteria provided, single submitter | research | The homozygous p.Ala227Thr variant in CAPN3 was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein by affecting the splicing site, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ala227Thr is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015). |