ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) (rs1554261079)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000515616 SCV000787493 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance, for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
Sandor Lifesciences Pvt Ltd RCV000515616 SCV000537858 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome no assertion criteria provided research The homozygous for this variant was a 11 year-old female child with severe and increasing dystonia. Patient had difficulty in walking and ataxia, which progressed to severe dystonia, wry neck, dysarthria, and drooling.

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