Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182352 | SCV000234665 | uncertain significance | not provided | 2022-05-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Invitae | RCV001852312 | SCV002145951 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with proline at codon 110 of the LMNA protein (p.Arg110Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 200930). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (ExAC no frequency). |