Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001909331 | SCV002180870 | uncertain significance | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2022-07-09 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 543 of the CLCN1 protein (p.Ala543Ile). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1407714). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. |
| Gene |
RCV003319490 | SCV004023604 | uncertain significance | not provided | 2024-10-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Athena Diagnostics | RCV003319490 | SCV005622552 | uncertain significance | not provided | 2024-06-24 | criteria provided, single submitter | clinical testing |