ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.524G>A (p.Arg175His) (rs121964955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216553 SCV001388356 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 175 of the ETFDH protein (p.Arg175His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with multiple acyl-CoA dehydrogenase deficiency in a family and it has been observed in combination with another ETFDH in unrelated individuals affected with this condition (PMID: 21347544, 18289905, 29988809, 20138856, 23628458). 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: 31576). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024282 SCV000045573 pathogenic Glutaric acidemia IIC 2010-12-01 no assertion criteria provided literature only

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