Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078717 | SCV000110577 | uncertain significance | not provided | 2013-10-30 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000673411 | SCV000798610 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2018-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001378119 | SCV001575619 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2023-06-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GLB1 function (PMID: 23337983). 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. ClinVar contains an entry for this variant (Variation ID: 92910). This missense change has been observed in individual(s) with GM1-gangliosidosis (PMID: 2149194, 25600812). This variant is present in population databases (rs398123355, gnomAD 0.001%). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 161 of the GLB1 protein (p.Trp161Gly). |
Gene |
RCV000078717 | SCV001985481 | uncertain significance | not provided | 2021-03-19 | criteria provided, single submitter | clinical testing | Not observed at a 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: 25600812, 23337983, 25525159, 21520340, 21497194) |
Genome |
RCV001175293 | SCV001338914 | not provided | GM1 gangliosidosis | no assertion provided | phenotyping only | Variant identified in multiple family members in the registry. Variant interpreted as Uncertain significance and reported, most recently, on 08-23-2017 by lab or GTR ID Prevention Genetics. GenomeConnect - GM1 assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |