Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546203 | SCV000657313 | uncertain significance | Bethlem myopathy 1 | 2019-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with phenylalanine at codon 1437 of the COL6A3 protein (p.Ile1437Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs144314743, ExAC 0.008%). This variant has not been reported in the literature in individuals with COL6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 476523). 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: "Probably 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. |
EGL Genetic Diagnostics, |
RCV000727675 | SCV000854985 | uncertain significance | not provided | 2017-10-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765643 | SCV000896972 | uncertain significance | Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 | 2018-10-31 | criteria provided, single submitter | clinical testing |