ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.549G>A (p.Met183Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448784 SCV004176494 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.549G>A (p.Met183Ile) in the ETFDH gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Methionine at position 183 is changed to an Isoleucine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Met183Ile in ETFDH is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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