Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000163699 | SCV000214273 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
| Invitae | RCV000641964 | SCV000763616 | benign | Tuberous sclerosis 1 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000641964 | SCV002040101 | likely benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003995272 | SCV004840463 | uncertain significance | Tuberous sclerosis syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamine with arginine at codon 527 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 3/251332 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |