Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003096074 | SCV003209220 | likely pathogenic | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2023-05-08 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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 expected to disrupt CLCN1 protein function. ClinVar contains an entry for this variant (Variation ID: 1697273). This missense change has been observed in individual(s) with clinical features of autosomal dominant CLCN1-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 215 of the CLCN1 protein (p.Lys215Arg). |
Department of Neurology and Geriatrics, |
RCV002267656 | SCV002549784 | likely pathogenic | Congenital myotonia, autosomal recessive form | 2022-04-06 | no assertion criteria provided | research | |
Department of Neurology and Geriatrics, |
RCV002267657 | SCV002549789 | likely pathogenic | Congenital myotonia, autosomal dominant form | 2022-04-06 | no assertion criteria provided | research |