ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.321G>T (p.Glu107Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002994107 SCV003297981 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 107 of the EMD protein (p.Glu107Asp). This variant is present in population databases (no rsID available, gnomAD 0.005%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with EMD-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EMD protein function. 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.
Revvity Omics, Revvity RCV003492791 SCV003833445 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2022-11-14 criteria provided, single submitter clinical testing

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