Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194202 | SCV000247076 | likely pathogenic | Myopathy | 2015-01-07 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000266193 | SCV000338776 | uncertain significance | not provided | 2016-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000546019 | SCV000657164 | uncertain significance | Bethlem myopathy 1 | 2019-05-16 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 878 of the COL6A2 protein (p.Ala878Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 210748). 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. |