ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) (rs1192969297)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652043 SCV000773908 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-08-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 214 of the ACADVL protein (p.Phe214Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as heterozygous in five individuals with abnormal newborn screening results suggestive of very long chain acyl-coA dehydrogenase deficiency (PMID: 26385305). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Counsyl RCV000652043 SCV000800414 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-06-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734877 SCV000863055 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000652043 SCV001365222 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.640T>G (NP_000009.1:p.Phe214Val) [GRCH38: NC_000017.11:g.7221969T>G] 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, PM1, PM2, PP3

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