Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000189906 | SCV000243564 | benign | not specified | 2015-01-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Illumina Laboratory Services, |
RCV001117542 | SCV001275742 | likely benign | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Genome- |
RCV001797671 | SCV002041464 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001797671 | SCV002410243 | benign | Tuberous sclerosis 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV003114344 | SCV003800372 | uncertain significance | not provided | 2022-07-22 | criteria provided, single submitter | clinical testing | The TSC2 c.2356-15T>A variant (rs189674303), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 207670). This variant is found in the Latino/Admixed American population with an allele frequency of 0.093% (33/35398 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.1.5.1) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, without functional studies the effect on splicing is unknown. While the population frequency suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of this variant is uncertain at this time. |