Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207947 | SCV001379315 | uncertain significance | Dilated Cardiomyopathy, Recessive | 2023-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 188 of the PLEKHM2 protein (p.Gly188Ser). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 938679). This variant has not been reported in the literature in individuals affected with PLEKHM2-related conditions. This variant is present in population databases (rs771166429, gnomAD 0.01%). |