ClinVar Miner

Submissions for variant NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) (rs104894677)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235936 SCV001408645 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 164 of the ETFB protein (p.Arg164Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been identified along with another ETFB variant to segregate with disease in a family (PMID: 7912128, 18289905). ClinVar contains an entry for this variant (Variation ID: 16716). This variant is also known as c.518G>A and p.Arg174Gln in the literature. 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: "Benign"; Align-GVGD: "Class C35"). This variant disrupts the p.Arg164 amino acid residue in ETFB. Other variant(s) that disrupt this residue have been observed in individuals with ETFB-related conditions (PMID: 18289905, 27081516), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000018200 SCV000038479 pathogenic Glutaric acidemia IIB 1994-03-01 no assertion criteria provided literature only

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