Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000516866 | SCV000202106 | pathogenic | not provided | 2014-02-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000516866 | SCV000612231 | pathogenic | not provided | 2016-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001203306 | SCV001374463 | pathogenic | Adrenoleukodystrophy | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 554 of the ABCD1 protein (p.Arg554His). This missense change has been observed in individual(s) with adrenoleukodystrophy (PMID: 9242200, 10227685, 23664929, 24719134, 26260157). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 166625). 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. For these reasons, this variant has been classified as Pathogenic. |
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, |
RCV001203306 | SCV001519090 | pathogenic | Adrenoleukodystrophy | 2021-01-04 | criteria provided, single submitter | research | |
Revvity Omics, |
RCV000516866 | SCV002019394 | pathogenic | not provided | 2022-06-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000516866 | SCV002044031 | pathogenic | not provided | 2021-12-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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: 15800013, 17504626, 16087056, 9242200, 10227685, 28919002, 26260157, 10737980, 11748843, 14767898, 21068741, 21476988, 22176151, 16415970, 30902905, 23664929, 15811009, 15643618, 23566833, 20859061, 34069712, 31405945, 24719134, 22479560, 32003821) |
Genome- |
RCV001203306 | SCV002045836 | pathogenic | Adrenoleukodystrophy | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Division of Human Genetics, |
RCV001203306 | SCV004034121 | pathogenic | Adrenoleukodystrophy | 2023-07-01 | criteria provided, single submitter | research | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001203306 | SCV004046981 | pathogenic | Adrenoleukodystrophy | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 554 of the ABCD1 protein (p.Arg554His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant has been observed in unrelated individuals and to segregate with adrenoleukodystrophy in a family (Jiang MY et al, Park HJ et al, Zhan ZX et al). The amino acid Arg at position 554 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. This variant has been reported to the ClinVar database as Pathogenic. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Arg554His in ABCD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The p.Arg554His variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is not present in population databases (ExAC no frequency).For these reasons, this variant has been classified as Pathogenic. | |
Baylor Genetics | RCV001203306 | SCV004206247 | pathogenic | Adrenoleukodystrophy | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000516866 | SCV000800835 | pathogenic | not provided | 2015-12-16 | no assertion criteria provided | clinical testing |