ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.673G>A (p.Glu225Lys)

dbSNP: rs886042056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280950 SCV000330905 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855077 SCV002117686 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2021-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed in individual(s) with MCAD deficiency (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 280948). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 225 of the ACADM protein (p.Glu225Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.

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