ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)

dbSNP: rs1197133430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059797 SCV001224445 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 258 of the ACADVL protein (p.Ile258Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with features of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (PMID: 30194637, 33986768; Invitae). ClinVar contains an entry for this variant (Variation ID: 854698). 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 ACADVL protein function. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001059797 SCV004215859 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-10-14 criteria provided, single submitter clinical testing

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