Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV001004976 | SCV001164518 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2018-12-03 | criteria provided, single submitter | research | The homozygous p.Gln633Ter variant in CAPN3 was identified by our study in two unrelated individuals with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies. This nonsense variant leads to a premature termination codon at position 633, which is predicted to lead to a truncated or absent protein. Loss of function of the CAPN3 gene is an established disease mechanism in autosomal recessive LGMD. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PVS1 (Richards 2015). |
Baylor Genetics | RCV003461311 | SCV004213782 | pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-04-19 | criteria provided, single submitter | clinical testing |