Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV002261734 | SCV002542032 | uncertain significance | not provided | 2021-12-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003095895 | SCV003516576 | uncertain significance | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2022-08-08 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 315 of the GLB1 protein (p.Ala315Asp). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with GLB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1693865). 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 GLB1 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 | RCV003095896 | SCV003716755 | uncertain significance | Inborn genetic diseases | 2021-03-22 | criteria provided, single submitter | clinical testing | The c.944C>A (p.A315D) alteration is located in exon 9 (coding exon 9) of the GLB1 gene. This alteration results from a C to A substitution at nucleotide position 944, causing the alanine (A) at amino acid position 315 to be replaced by an aspartic acid (D). The in silico prediction for the p.A315D alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |