ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)

dbSNP: rs1569540695
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761213 SCV000891166 likely pathogenic Adrenoleukodystrophy 2018-05-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784375 SCV002023946 likely pathogenic not provided 2023-11-02 criteria provided, single submitter clinical testing
GeneDx RCV001784375 SCV002104371 likely pathogenic not provided 2024-07-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31074578, 26227820, 33359056, 35466195, 36046390)
Labcorp Genetics (formerly Invitae), Labcorp RCV000761213 SCV003440431 pathogenic Adrenoleukodystrophy 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 163 of the ABCD1 protein (p.Arg163Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ABCD1-related conditions (PMID: 31074578, 33359056). ClinVar contains an entry for this variant (Variation ID: 623113). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCD1 protein function with a positive predictive value of 95%. This variant disrupts the p.Arg163 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000761213 SCV005055159 likely pathogenic Adrenoleukodystrophy 2024-03-15 criteria provided, single submitter clinical testing

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