Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498179 | SCV000590729 | pathogenic | not provided | 2017-06-15 | criteria provided, single submitter | clinical testing | The c.339_340delCCinsG variant in the COL11A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.339_340delCCinsG variant causes a frameshift starting with codon Leucine 114, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Leu114TrpfsX31. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.339_340delCCinsG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.339_340delCCinsG as a pathogenic variant. |