Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001235162 | SCV001407835 | uncertain significance | Bethlem myopathy 1 | 2022-07-02 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 961466). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. This variant is present in population databases (rs756868798, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2493 of the COL6A3 protein (p.Phe2493Leu). |
| Greenwood Genetic Center Diagnostic Laboratories, |
RCV001814285 | SCV002061726 | uncertain significance | not provided | 2021-11-24 | criteria provided, single submitter | clinical testing | PP3, PM2 |