ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.583G>A (p.Gly195Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002970749 SCV003281260 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 195 of the MECR protein (p.Gly195Arg). This variant is present in population databases (rs200619935, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MECR-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 expected to disrupt MECR 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002970749 SCV004227804 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV004559991 SCV005049320 uncertain significance Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2023-12-14 criteria provided, single submitter clinical testing

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