ClinVar Miner

Submissions for variant NM_015929.3(LIPT1):c.[131A>G];[875C>G]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas RCV000591000 SCV000588895 pathogenic Lipoyl transferase 1 deficiency 2017-08-14 no assertion criteria provided clinical testing The compound heterozygous variants are identified in a female proband presenting with clinical features of LIPT1 deficiency, including early-onset lactic acidosis and global developmental delay.

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