Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163706 | SCV000214280 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-09-14 | criteria provided, single submitter | clinical testing | The c.*5G>A variant is located in the 3' untranslated region (3’ UTR) of the TSC2 gene. This variant results from a G to A substitution 5 nucleotides after the last translated codon. This variant was previously reported in the SNPDatabase as rs201342697. Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.59% (1/170) British alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.02% (2/12974) total alleles studied, having been observed in 0.05% (2/4382) African American alleles. To date, this alteration has been detected with an allele frequency of approximately 0.02% (greater than 20000 alleles tested) in our clinical cohort. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.*5G>A remains unclear. |
Illumina Laboratory Services, |
RCV000346660 | SCV000395688 | likely benign | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001547283 | SCV001766947 | likely benign | not provided | 2023-07-18 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Genome- |
RCV001797646 | SCV002040304 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895110 | SCV004717370 | likely benign | TSC2-related condition | 2023-11-08 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |