ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) (rs398123072)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000077882 SCV000228752 pathogenic not provided 2012-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000176961 SCV000268474 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000077882 SCV000329673 pathogenic not provided 2016-08-15 criteria provided, single submitter clinical testing The R53C pathogenic variant in the ACADM gene has been reported previously in association with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (Derks et al., 2014). Expression studies found that R53C is associated with significantly reduced MCAD enzyme activity in comparison to wild type (Andresen et al., 1993; Bross et al., 1995).
Fulgent Genetics,Fulgent Genetics RCV000176961 SCV000893467 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000176961 SCV000943514 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-05-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 53 of the ACADM protein (p.Arg53Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs398123072, ExAC 0.002%). This variant has been observed in combination with another ACADM variant in individuals affected with MCAD deficiency (PMID: 8102510, 15832312, 16737882, 20434380, 22796001, 24623196). This variant is also known as R28C in the literature. ClinVar contains an entry for this variant (Variation ID: 92258). Experimental studies have shown that this missense change disrupts ACADM protein function (PMID: 8102510, 26947917). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000176961 SCV000487011 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-09-23 no assertion criteria provided clinical testing

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