Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000725122 | SCV000334257 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000319603 | SCV000428852 | likely benign | Collagen VI-related myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725122 | SCV000617950 | uncertain significance | not provided | 2018-12-27 | criteria provided, single submitter | clinical testing | The R659C variant in the COL6A3 gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The R659C variant was not observed at any significantfrequency in approximately 6500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The R659C variant is a non-conservative amino acid substitution, which occurs within the VWFA 4domain and Nonhelical region at a position where amino acids with similar properties to Arginine aretolerated across species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. We interpret R659C as a variant of uncertain significance. |