ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)

dbSNP: rs193922097
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029289 SCV000051935 pathogenic Adrenoleukodystrophy 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Eurofins Ntd Llc (ga) RCV000723567 SCV000109794 pathogenic not provided 2014-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723567 SCV001249769 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000029289 SCV002045803 pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000029289 SCV002231474 pathogenic Adrenoleukodystrophy 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 141 of the ABCD1 protein (p.Ala141Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with adrenoleukodystrophy (PMID: 7581394, 17504626, 21068741, 24719134, 31227335). ClinVar contains an entry for this variant (Variation ID: 35642). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000723567 SCV002765574 pathogenic not provided 2022-12-19 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: 7581394, 16087056, 21068741, 21300044, 17504626, 34291142, 24719134, 31227335)
Baylor Genetics RCV000029289 SCV004208307 pathogenic Adrenoleukodystrophy 2023-03-14 criteria provided, single submitter clinical testing

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