ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) (rs121964954)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224728 SCV000281570 pathogenic not provided 2015-10-30 criteria provided, single submitter clinical testing
Invitae RCV000553294 SCV000631958 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 84 of the ETFDH protein (p.Ala84Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs121964954, ExAC 0.2%). This variant is a prevalent mutation in Chinese individuals affected with late-onset, riboflavine-responsive form of MADD. It has been reported as homozygous or compound heterozygous in multiple affected individuals with evidence of segregation with disease in affected families (PMID: 24357026, 27000805, 27270537, 19249206, 22013910, 20370797, 21347544). ClinVar contains an entry for this variant (Variation ID: 12028). Experimental studies have shown that this variant increases reactive oxygen species production and impairs neurite outgrowth in vitro (PMID: 27935074). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012808 SCV000033048 pathogenic Glutaric acidemia IIC 2010-12-01 no assertion criteria provided literature only
SingHealth Duke-NUS Institute of Precision Medicine RCV000553294 SCV000853129 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2017-06-07 no assertion criteria provided curation

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