Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415953 | SCV000493548 | uncertain significance | not provided | 2016-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079272 | SCV000544511 | likely benign | Tuberous sclerosis 2 | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000415953 | SCV000619786 | uncertain significance | not provided | 2017-08-04 | criteria provided, single submitter | clinical testing | The R786C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R786C variant is observed in 5/65,144 (0.008%) alleles from individuals of European background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution does not occur within known functional domains of the tuberin protein, where many pathogenic missense variants have been identified (Northrup et al., 2011; Au et al., 2007). |
Ambry Genetics | RCV001015130 | SCV001175933 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Genome- |
RCV001079272 | SCV002039649 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |