ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr)

gnomAD frequency: 0.00001  dbSNP: rs377659973
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Total submissions: 3
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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 RCV001200779 SCV001365219 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1964T>A (NP_000009.1:p.Phe655Tyr) [GRCH38: NC_000017.11:g.7225093T>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001200779 SCV001374118 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 655 of the ACADVL protein (p.Phe655Tyr). This variant is present in population databases (rs377659973, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 932826). 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. 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.
Natera, Inc. RCV001200779 SCV002088826 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-04-30 no assertion criteria provided clinical testing

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