ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)

gnomAD frequency: 0.00001  dbSNP: rs141407224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558221 SCV000631961 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 227 of the ETFDH protein (p.Pro227Thr). This variant is present in population databases (rs141407224, gnomAD 0.006%). This missense change has been observed in individuals with glutaric aciduria (PMID: 34066864; Invitae). ClinVar contains an entry for this variant (Variation ID: 459966). 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 with a positive predictive value of 80%. 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.
Natera, Inc. RCV000558221 SCV001457027 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2020-04-21 no assertion criteria provided clinical testing

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