Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
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, |
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 | 2024-02-15 | criteria provided, single submitter | clinical testing | |
Developmental and Behavioral Pediatrics, |
RCV000211437 | SCV003838956 | likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | no assertion criteria provided | clinical testing |