Submissions for variant NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)

dbSNP: rs780510026

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000211533	SCV000268451	uncertain significance	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2015-02-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000211533	SCV000630295	pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2023-06-21	criteria provided, single submitter	clinical testing	This missense change has been observed in individual(s) with MCAD deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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. ClinVar contains an entry for this variant (Variation ID: 226067). This variant is present in population databases (rs780510026, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 252 of the ACADM protein (p.Phe252Cys).
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000211533	SCV001448920	uncertain significance	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2019-03-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000211533	SCV001461469	uncertain significance	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2020-09-16	no assertion criteria provided	clinical testing