ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.311G>A (p.Arg104His)

dbSNP: rs1557052302
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544041 SCV000630005 pathogenic Adrenoleukodystrophy 2022-11-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 104 of the ABCD1 protein (p.Arg104His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with X-linked adrenoleukodystrophy (PMID: 7717396, 11336405, 11748843, 16415970). ClinVar contains an entry for this variant (Variation ID: 458642). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCD1 protein function. This variant disrupts the p.Arg104 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7825602, 11102997, 17542813, 26454440). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000544041 SCV001428459 pathogenic Adrenoleukodystrophy 2019-05-03 criteria provided, single submitter clinical testing This variant was identified as hemizygous
GeneDx RCV001580508 SCV001817889 likely pathogenic not provided 2023-06-21 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: 24788897, 11748843, 7717396, 11336405, 16415970, 34826210, 33920672, 31967205)
Genome-Nilou Lab RCV000544041 SCV002045802 likely pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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