Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000516361 | SCV000612774 | uncertain significance | not specified | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000815375 | SCV000955825 | uncertain significance | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 675 of the CLCN1 protein (p.Gln675Pro). This variant is present in population databases (rs768582911, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 447059). 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 CLCN1 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. |
Revvity Omics, |
RCV003144302 | SCV003830770 | uncertain significance | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003144302 | SCV005079844 | uncertain significance | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |
Ambry Genetics | RCV004609418 | SCV005103603 | uncertain significance | Inborn genetic diseases | 2024-03-31 | criteria provided, single submitter | clinical testing | The c.2024A>C (p.Q675P) alteration is located in exon 17 (coding exon 17) of the CLCN1 gene. This alteration results from a A to C substitution at nucleotide position 2024, causing the glutamine (Q) at amino acid position 675 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |