ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.731C>T (p.Ala244Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003319149 SCV004022310 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2023-07-31 criteria provided, single submitter clinical testing The identified homozygous missense substitution (p.Ala244Val) lies in exon 8 of the ETFA gene and alters a conserved residue in the protein. It lies in the domain-II region of the protein. This variant has not been observed in 1000 genomes and gnomAD databases. In silico prediction of the variant is damaging by LRT, SIFT, and Mutation Taster2. The identified variant (c.731C>T) lies 3 nucleotides upstream of an essential splice donor site and is likely to affect splicing or create alternate cryptic splice site (ASSP, MaxEntScan and NNSPLICE). The reference codon is conserved across species.

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