Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196258 | SCV000250562 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002517181 | SCV002979591 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-06-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 213609). 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. This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs782174781, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1670 of the LAMA4 protein (p.Arg1670His). |