Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000658067 | SCV000339026 | uncertain significance | not provided | 2018-02-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000658067 | SCV000779838 | uncertain significance | not provided | 2023-07-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623, Munch2022[casereport]) |
Invitae | RCV000694581 | SCV000823032 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 406 of the POMT1 protein (p.Gly406Ser). This variant is present in population databases (rs146234177, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 285835). 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 POMT1 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. |
Fulgent Genetics, |
RCV000764806 | SCV000895951 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000658067 | SCV001145177 | uncertain significance | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002519194 | SCV003605627 | uncertain significance | Inborn genetic diseases | 2022-05-04 | criteria provided, single submitter | clinical testing | The c.1216G>A (p.G406S) alteration is located in exon 12 (coding exon 11) of the POMT1 gene. This alteration results from a G to A substitution at nucleotide position 1216, causing the glycine (G) at amino acid position 406 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000658067 | SCV003809699 | uncertain significance | not provided | 2023-01-04 | criteria provided, single submitter | clinical testing |