Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001921143 | SCV002189303 | uncertain significance | X-linked Emery-Dreifuss muscular dystrophy | 2022-06-20 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 81 of the EMD protein (p.Asp81Asn). This variant is present in population databases (rs141138209, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with EMD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV001921143 | SCV002777754 | uncertain significance | X-linked Emery-Dreifuss muscular dystrophy | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002556420 | SCV003194785 | uncertain significance | not provided | 2022-07-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Mayo Clinic Laboratories, |
RCV002556420 | SCV005411514 | uncertain significance | not provided | 2024-03-07 | criteria provided, single submitter | clinical testing |