ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)

dbSNP: rs1452402269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668695 SCV000793339 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV000668695 SCV002262464 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-05-22 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 553283). This missense change has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 27246109, 31031081). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 641 of the ACADVL protein (p.Leu641Phe).

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