Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246222 | SCV001419563 | uncertain significance | Hypertrophic cardiomyopathy | 2019-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 1212 of the MYH7 protein (p.Arg1212Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH7-related conditions. This variant is not present in population databases (ExAC no frequency). |
Diagnostic Laboratory, |
RCV001528855 | SCV001741293 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001528855 | SCV001953622 | uncertain significance | not provided | no assertion criteria provided | clinical testing |