ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) (rs376472029)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000766078 SCV000897552 uncertain significance Adrenoleukodystrophy 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000432469 SCV000535082 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing The G528S variant in the ABCD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G528S variant was not observed at any significant frequency in approximately 6,500 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 G528S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G528S as a variant of uncertain significance.

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