Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227000 | SCV001399334 | uncertain significance | Adrenoleukodystrophy | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 693 of the ABCD1 protein (p.Thr693Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This missense change has been observed in individual(s) with adrenoleukodystrophy (PMID: 11748843). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001664767 | SCV001875316 | uncertain significance | not provided | 2021-03-09 | criteria provided, single submitter | clinical testing | Reported in database of X-ALD associated variants with no further clinical information (Kemp et al., 2001); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 11748843) |
Genome- |
RCV001227000 | SCV002045799 | uncertain significance | Adrenoleukodystrophy | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001227000 | SCV002084662 | uncertain significance | Adrenoleukodystrophy | 2020-10-15 | no assertion criteria provided | clinical testing |