ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.[1310T>C;869del]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences RCV001075887 SCV001241528 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-12-01 no assertion criteria provided research A 31-year-old woman without a history of any medical disorder was evaluated due to elevated liver enzymes and high CK (7057 IU/L). She did not report any exercise intolerance or weakness. Her parents were first cousins and she had two asymptomatic older sisters and two younger brothers. Muscle MRI revealed mild fat deposition in gastrocnemius and soleus muscles. Muscle biopsy from the lateral head of right gastrocnemius revealed mixed myopathic and neurogenic atrophy.

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