Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001065338 | SCV001230294 | pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2023-08-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ACADM function (PMID: 24966162). 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. ClinVar contains an entry for this variant (Variation ID: 859269). This variant is also known as M303V. This missense change has been observed in individual(s) with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 23028790; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 328 of the ACADM protein (p.Met328Val). |
| Baylor Genetics | RCV001065338 | SCV004217322 | likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2023-03-14 | criteria provided, single submitter | clinical testing |