ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.92-239G>C (rs1562458915)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
laboratory of biochemistry,Caen University Hospital RCV000714974 SCV000844950 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2018-10-23 criteria provided, single submitter case-control The patient fullfilled criteria for the MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like) syndrome : failure to thrive, hypotonia deafness, dystonia, and spasticity and loss of acquired skills. Brain MRI showed a major and diffuse cortical and subcortical atrophy and bilateral abnormalities of the putamen and thalami. We evidenced increased excretion of both 3-methylglutaconic acid and 3-methylglutaric acid. We identified two compound heterozygous variants in the SERAC1 gene: a pathogenic nonsense substitution : c.202C>T, (p.Arg68*), and a novel mutation at a canonical splicing site upstream exon 4 (c.129-1G>C). mRNAs sequencing of SERAC1 showed that the splice site mutation resulted in exon 3 skipping and western-blot experiments showed the absence of SERAC1 expression in the fibroblasts.

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