ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) (rs151254520)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525816 SCV000654947 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 632 of the ACADVL protein (p.Arg632Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs151254520, ExAC 0.07%). This variant has been observed in an individual affected with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 27209629). ClinVar contains an entry for this variant (Variation ID: 474894). 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: "Possibly 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 RCV000525816 SCV000788720 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-01-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000525816 SCV001163429 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000525816 SCV001365218 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1894C>T (NP_000009.1:p.Arg632Cys) [GRCH38: NC_000017.11:g.7225023C>T] 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: PP3

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