ClinVar Miner

Submissions for variant NM_001002030.2(ECHDC1):c.498-40AG[2]

dbSNP: rs770887258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University RCV001290987 SCV001432710 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2019-09-12 criteria provided, single submitter research ECHDC1 encodes a 'metabolite repair enzyme' detoxifying ethylmalonic acid (EMA), which is the biochemical hallmark of short-chain acyl-CoA dehydrogenase deficiency (OMIM:201470), caused by biallelic ACADS variants. We provide functional evidence that ECHDC1 c.498-36_498-33del4bp is a loss-of function (LOF) variant. The variant was identified in the heterozygous state together with a heterozygous ACADS NM_000017.2: c.625G>A susceptibility variant. We provide functional evidence that ECHDC1 haploinsufficiency in combination with ACADS c.625G>A susceptibility variants has a synergistic effect on cellular EMA levels. In a cohort of 82 genetically unsolved EMA patients, we found three unrelated cases with heterozygous LOF ECHDC1 variants combined with ACADS c.625G>A suceptibility variants.

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