ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) (rs1057520214)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422626 SCV000511928 likely pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing The E59D missense change has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative in that both Glutamic Acid and Aspartic Acid are negatively charged, polar amino acids. This change occurs at a highly conserved position in the ACADM protein and in related proteins, and missense variants at nearby positions (A56P, Y67H) have been reported in association with medium chain acyl-CoA dehydrogenase (MCAD) deficiency according to the Human Gene Mutation Database. Furthermore, in-silico analyses are mixed but most predict that E59D is damaging to the ACADM protein. Therefore, we interpreted E59D to be a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Counsyl RCV000675125 SCV000800694 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-04-09 criteria provided, single submitter clinical testing

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