Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Genomics, |
RCV003307365 | SCV004009559 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2023-07-07 | criteria provided, single submitter | clinical testing | The novel heterozygous variant c.5195G>C (p.Arg1732Pro) has been identified in a proband with history of progressive lower limb weakness, unable to walk on toes, upper limb weakness, gower sign positive, truncal muscle weakness and EMG-myopathy. The elder sister also has similar history. This variant has not been found in gnomAD (aggregated) database (PM2_moderate). In-silico prediction tools predict this variant to have a deleterious effect (PP3_strong). A different amino acid change is known as a pathogenic variant (PM5_supporting). |