Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000354989 | SCV000337106 | pathogenic | not provided | 2015-10-28 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV001004990 | SCV001164544 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2018-12-03 | criteria provided, single submitter | research | The homozygous p.Ile178Thr 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, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ile178Thr variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015). |