Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000333171 | SCV000345023 | uncertain significance | not provided | 2016-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000696056 | SCV000824601 | uncertain significance | Bethlem myopathy 1 | 2019-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 2505 of the COL6A3 protein (p.Gly2505Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs545819982, ExAC 0.04%). This variant has been observed in individual(s) with clinical suspicion of limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 290462). 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). 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. |