Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037030 | SCV001200421 | uncertain significance | Dilated Cardiomyopathy, Recessive | 2022-06-24 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs770725489, gnomAD 0.003%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 836010). This variant has not been reported in the literature in individuals affected with PLEKHM2-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 860 of the PLEKHM2 protein (p.Glu860Lys). |