ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) (rs727503791)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000259047 SCV000602371 likely pathogenic not specified 2017-01-30 criteria provided, single submitter clinical testing
Counsyl RCV000675106 SCV000800653 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-01-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152735 SCV000202122 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000152735 SCV000238635 pathogenic not provided 2015-03-26 criteria provided, single submitter clinical testing The A180T missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It has been seen previously at GeneDx in multiple patients referred for analysis of the ACADVL gene. One such patient also harbored a previously reported disease-associated ACADVL missense mutation. A180T is a nonconservative amino acid change in that a hydrophobic amino acid, Alanine, is replaced by a hydrophilic amino acid, Threonine. This missense change occurs at a highly conserved position in the ACADVL protein across species and in other acyl-CoA dehydrogenases. Multiple missense mutations at nearby positions (V174M, L178P, G179W, G185W, G185S, I189T) have been reported in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, and multiple in-silico analysis programs predict that A180T is damaging to the ACADVL protein. Therefore, we interpret A180T to be a pathogenic mutation.The variant is found in ACADVL panel(s).

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