Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627586 | SCV000748586 | pathogenic | not provided | 2018-04-23 | criteria provided, single submitter | clinical testing | The c.720dupG variant in the CAPN3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.720dupG variant causes a frameshift starting with codon Isoleucine 241, changes this amino acid to a Aspartic Acid residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Ile241AspfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.720dupG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.720dupG as a pathogenic variant. |