Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001943076 | SCV002183562 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 108 of the CABP4 protein (p.Ala108Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs199718669, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CABP4-related conditions. 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 not expected to disrupt CABP4 protein function. 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. |
| Ambry Genetics | RCV003365547 | SCV004083754 | uncertain significance | Inborn genetic diseases | 2023-08-10 | criteria provided, single submitter | clinical testing | The c.322G>A (p.A108T) alteration is located in exon 1 (coding exon 1) of the CABP4 gene. This alteration results from a G to A substitution at nucleotide position 322, causing the alanine (A) at amino acid position 108 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004816750 | SCV005073230 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |