Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697852 | SCV000826484 | uncertain significance | Dilated Cardiomyopathy, Recessive | 2018-01-07 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with alanine at codon 569 of the PLEKHM2 protein (p.Gly569Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PLEKHM2-related disease. This variant is not present in population databases (ExAC no frequency). |