ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.609C>G (p.Ile203Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002650112 SCV002970811 uncertain significance not provided 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 203 of the MECR protein (p.Ile203Met). This variant is present in population databases (rs139257940, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MECR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1939658). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MECR protein function with a negative predictive value of 80%. 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.

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