Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517041 | SCV000613018 | likely pathogenic | not provided | 2016-11-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000644599 | SCV000766299 | pathogenic | Congenital myasthenic syndrome 5 | 2023-05-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 COLQ protein function. ClinVar contains an entry for this variant (Variation ID: 447217). This missense change has been observed in individuals with congenital myasthenic syndrome (PMID: 15248101, 18180250, 22678886). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs375215281, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 441 of the COLQ protein (p.Thr441Ala). |
Revvity Omics, |
RCV000644599 | SCV002023366 | likely pathogenic | Congenital myasthenic syndrome 5 | 2020-02-06 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000644599 | SCV002580013 | likely pathogenic | Congenital myasthenic syndrome 5 | 2022-05-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000517041 | SCV004021312 | uncertain significance | not provided | 2023-01-20 | criteria provided, single submitter | clinical testing | Reported with a second COLQ variant, phase unknown, in a patient with ptosis, pain, and muscle weakness (Wargon et al., 2012); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 31773638, 32528171, 18180250, 34553317, 15248101, 22088788) |
Baylor Genetics | RCV000644599 | SCV004214432 | likely pathogenic | Congenital myasthenic syndrome 5 | 2023-10-31 | criteria provided, single submitter | clinical testing |