ClinVar Miner

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

gnomAD frequency: 0.00010  dbSNP: rs376472029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Fulgent Genetics,Fulgent Genetics RCV000766078 SCV000897552 uncertain significance Adrenoleukodystrophy 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000766078 SCV001421022 likely benign Adrenoleukodystrophy 2021-11-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000766078 SCV002045769 uncertain significance Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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