ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.380T>A (p.Leu127His)

dbSNP: rs121964956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000721976 SCV002238344 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces leucine with histidine at codon 127 of the ETFDH protein (p.Leu127His). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and histidine. This variant is present in population databases (rs121964956, ExAC 0.01%). This missense change has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 19249206). 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: 12030). 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 ETFDH protein function. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012810 SCV000033050 pathogenic Glutaric acidemia IIc 2009-03-01 no assertion criteria provided literature only
SingHealth Duke-NUS Institute of Precision Medicine RCV000721976 SCV000853130 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2017-06-07 no assertion criteria provided curation

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