ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)

dbSNP: rs369912835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479281 SCV000564969 uncertain significance not provided 2024-09-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32499892, 30424791, 28456887, 33589341, 37845732, 32793418, 35309592, 34827632, 37168503, 31997039, 38967380)
Labcorp Genetics (formerly Invitae), Labcorp RCV001865424 SCV002285094 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2021-10-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 187 of the ETFDH protein (p.Ala187Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs369912835, ExAC 0.003%). This variant has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 28456887, 30424791, 31997039). ClinVar contains an entry for this variant (Variation ID: 418183). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ETFDH protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV001865424 SCV004194797 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-02-26 criteria provided, single submitter clinical testing

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