Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071789 | SCV001237110 | uncertain significance | Tuberous sclerosis 1 | 2022-03-29 | criteria provided, single submitter | clinical testing | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 864569). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. This variant is present in population databases (rs760470520, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 443 of the TSC1 protein (p.Gly443Arg). |
Institute for Clinical Genetics, |
RCV002307679 | SCV002009249 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001071789 | SCV002039275 | uncertain significance | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002307679 | SCV002601392 | uncertain significance | not provided | 2022-05-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |