Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227059 | SCV000285299 | benign | Tuberous sclerosis 2 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000277301 | SCV000395612 | uncertain significance | Tuberous sclerosis syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Institute of Human Genetics, |
RCV000227059 | SCV001429613 | uncertain significance | Tuberous sclerosis 2 | 2019-12-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000227059 | SCV002039659 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450674 | SCV002738721 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-15 | 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. |
Prevention |
RCV003407770 | SCV004112790 | uncertain significance | TSC2-related condition | 2023-03-06 | criteria provided, single submitter | clinical testing | The TSC2 c.2521G>A variant is predicted to result in the amino acid substitution p.Val841Ile. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. In ClinVar, this variant has conflicting interpretations of benign, likely benign, and uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/237994/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
CSER _CC_NCGL, |
RCV000277301 | SCV000503566 | uncertain significance | Tuberous sclerosis syndrome | 2016-08-01 | no assertion criteria provided | research | Found in patient having exome sequencing for an unrelated indication. No known history of Tuberous sclerosis complex. |