ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)

gnomAD frequency: 0.00001  dbSNP: rs398123075
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633657 SCV000754912 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 85 of the ACADM protein (p.Gly85Cys). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with medium chain acyl-CoA dehydrogenase deficiency (PMID: 15171998, 20434380; 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: 497550). 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 expected to disrupt ACADM protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000633657 SCV002023970 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-11-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000633657 SCV004217256 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000593338 SCV005325430 likely pathogenic not provided 2023-12-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 20434380, 15171998, 22683754, 32778825, 16291504)
Eurofins Ntd Llc (ga) RCV000593338 SCV000702140 uncertain significance not provided 2016-10-24 flagged submission clinical testing

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