ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.406G>A (p.Gly136Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598554 SCV005091114 uncertain significance Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2024-07-31 criteria provided, single submitter clinical testing A missense variant NM_016011.5: c.406G>A was identified in exon 3 of the MECR gene in homozygous state. This variant involves a protein-level change from Glycine to Arginine at position 136 (p.(Gly136Arg)). This variant has a null frequency in population databases. In turn, it has not been previously reported in the scientific literature or in databases associated with pathologies of genetic origin. On the other hand, bioinformatics tools indicate that the variant would have a deleterious effect on the functionality of the protein.

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