ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.542A>G (p.His181Arg) (rs1425862331)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554955 SCV000654955 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2016-04-12 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 181 of the ACADVL protein (p.His181Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with VLCAD deficiency. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594820 SCV000709170 uncertain significance not provided 2017-06-19 criteria provided, single submitter clinical testing

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