ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) (rs757434857)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000333494 SCV000792455 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-06-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723521 SCV000331231 likely pathogenic not provided 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000333494 SCV000931696 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-10-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 45 of the ACADM protein (p.Gln45Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs757434857, ExAC 0.01%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with MCAD deficiency. This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. It has also been reported in several unrelated affected individuals with unknown phase and in an asymptomatic individual (PMID: 20434380, 18241067, 22796001, Invitae). ClinVar contains an entry for this variant (Variation ID: 281077). Experimental studies have shown that this missense change decreases ACADM enzymatic activity (PMID: 26947917). For these reasons, this variant has been classified as Pathogenic.

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