ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)

dbSNP: rs2071345821
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200727 SCV001365227 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1310T>C (NP_000009.1:p.Met437Thr) [GRCH38: NC_000017.11:g.7223853T>C] variant in ACADVL gene is interpretated to be Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PS3, PM3, PP3, PP4
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814269 SCV001755482 likely pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001200727 SCV002242104 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 437 of the ACADVL protein (p.Met437Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 24801231; Invitae). ClinVar contains an entry for this variant (Variation ID: 869108). 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 with a positive predictive value of 95%. This variant disrupts the p.Met437 amino acid residue in ACADVL. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11914034). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001200727 SCV004216946 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-06-12 criteria provided, single submitter clinical testing

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