ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) (rs587776498)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481050 SCV000565894 pathogenic not provided 2017-02-03 criteria provided, single submitter clinical testing The A2V variant in the ECHS1 gene has been reported previously in a patient with Leigh syndrome(Sakai et al., 2015). The A2V variant was not observed in approximately 5,700 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. A2V is a conservative amino acid substitution, which isnot likely to impact secondary protein structure as these residues share similar properties. This substitutionoccurs at a position that is conserved in mammals. Functional studies showed that the A2V variant wasassociated with a reduction in protein expression and enzyme activity. We interpret A2V as pathogenic.
Mendelics RCV000167582 SCV001138193 pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2019-05-28 criteria provided, single submitter clinical testing
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry RCV000144497 SCV000189815 probable-pathogenic Leigh syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000167582 SCV000218463 pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2015-02-01 no assertion criteria provided literature only

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