ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.50G>A (p.Arg17His)

gnomAD frequency: 0.00004  dbSNP: rs17848070
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000211437 SCV000268463 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000211437 SCV002580157 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000211437 SCV002776945 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2021-07-07 criteria provided, single submitter clinical testing
Invitae RCV000211437 SCV003489451 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-06-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 17 of the ACADM protein (p.Arg17His). This variant is present in population databases (rs17848070, gnomAD 0.01%). This missense change has been observed in individual(s) with a positive newborn screening result for ACADM-related disease (PMID: 19780764, 26947917, 27856190). ClinVar contains an entry for this variant (Variation ID: 226078). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ACADM protein function. Experimental studies have shown that this missense change affects ACADM function (PMID: 27856190). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000211437 SCV004212169 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-10-28 criteria provided, single submitter clinical testing
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University RCV000211437 SCV003838956 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency no assertion criteria provided clinical testing

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