ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)

dbSNP: rs771978135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543549 SCV000630274 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 345 of the ACADM protein (p.Asp345Val). This variant is present in population databases (rs771978135, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of medium-chain acyl-coenzyme A dehydrogenase deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 458788). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ACADM protein function. This variant disrupts the p.Asp345 amino acid residue in ACADM. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23028790, 24966162). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
Natera, Inc. RCV000543549 SCV001461473 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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