Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000518453 | SCV000614754 | uncertain significance | not specified | 2017-03-13 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727260 | SCV000707048 | uncertain significance | not provided | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000695518 | SCV000824024 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N | 2022-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 564 of the POMT2 protein (p.Thr564Met). This variant is present in population databases (rs142445941, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 448116). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on POMT2 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. |
Ce |
RCV000727260 | SCV001149282 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727260 | SCV001791724 | uncertain significance | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV000727260 | SCV003809715 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing |