ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)

gnomAD frequency: 0.00006  dbSNP: rs375019683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418353 SCV000527744 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing The P34S variant in the ABCD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P34S variant was not observed with any significant frequency in approximately 4500 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 P34S 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 and this substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret P34S as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001276529 SCV003517657 likely benign Adrenoleukodystrophy 2025-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276529 SCV001462919 uncertain significance Adrenoleukodystrophy 2020-09-16 no assertion criteria provided clinical testing

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