Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696514 | SCV000825077 | uncertain significance | Bethlem myopathy 1 | 2019-09-04 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 910 of the COL6A3 protein (p.Thr910Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs189356869, ExAC 0.02%). This variant has not been reported in the literature in individuals with COL6A3-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Genomic Research Center, |
RCV000785110 | SCV000923670 | uncertain significance | not specified | 2019-01-01 | criteria provided, single submitter | clinical testing |