ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) (rs761964407)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sandor Lifesciences Pvt Ltd RCV000494711 SCV000537857 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome no assertion criteria provided research Observed in a female patient who developed severe respiratory distress due to severe metabolic acidosis. Serum lactate, transaminases and serum bilirubin elevated. Subsequent follow up at 15 months of age revealed gross psychomotor delay with dystonia with urine organic acid analysis showing 7-fold increase in methylglutaconic acid and 2-fold increase in 3-methyl glutaric acid levels. The patient was re-evaluated at 7 years of age. At this age, the patient manifested seizures, generalized dystonia, failure to thrive, swallowing difficulty, spasticity and flexion contractures.

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