ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)

dbSNP: rs1553123872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673982 SCV000799247 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-04-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000673982 SCV002796345 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673982 SCV003523288 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-10-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 181 of the ACADM protein (p.Asp181Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 23430840; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 557798). 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 with a negative predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000673982 SCV004214880 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2024-03-12 criteria provided, single submitter clinical testing

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