Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761214 | SCV000891167 | likely pathogenic | Adrenoleukodystrophy | 2018-08-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000761214 | SCV001373941 | pathogenic | Adrenoleukodystrophy | 2022-12-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 623114). This missense change has been observed in individual(s) with clinical and/or biochemical features of adrenoleukodystrophy (PMID: 21700483, 30658899, 31074578; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 198 of the ABCD1 protein (p.Thr198Met). 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. This variant disrupts the p.Thr198 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been observed in individuals with ABCD1-related conditions (PMID: 11748843), which suggests that this may be a clinically significant amino acid residue. |
Genome- |
RCV000761214 | SCV002045810 | pathogenic | Adrenoleukodystrophy | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003141740 | SCV003822544 | likely pathogenic | not provided | 2022-02-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000761214 | SCV004206410 | pathogenic | Adrenoleukodystrophy | 2022-04-30 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000761214 | SCV001469223 | pathogenic | Adrenoleukodystrophy | 2020-06-07 | no assertion criteria provided | clinical testing |