ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) (rs367799134)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437883 SCV000524368 uncertain significance not specified 2016-02-20 criteria provided, single submitter clinical testing The G131V variant in the ABCD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G131V variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G131V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G131V as a variant of uncertain significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000681640 SCV000809086 uncertain significance Adrenoleukodystrophy 2018-04-25 criteria provided, single submitter clinical testing

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