Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824388 | SCV000965284 | likely benign | Tuberous sclerosis 2 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022719 | SCV001184487 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-15 | criteria provided, single submitter | clinical testing | The c.4570-1G>A intronic variant results from a G to A substitution one nucleotide upstream from coding exon 35 of the TSC2 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. However, this alteration is predicted to lead to an in frame loss of coding exon 35 and no known functional domains or pathogenic mutations are located in this exon. In addition, this alteration has been observed in a few families who do not have a personal or family history that is consistent with or suggestive of TSC2-associated disease (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Human Genome Sequencing Center Clinical Lab, |
RCV000824388 | SCV001434941 | likely pathogenic | Tuberous sclerosis 2 | 2018-10-12 | criteria provided, single submitter | clinical testing | This c.4570-1G>A variant in a canonical splice site acceptor site is predicted to result in a frameshift mutation resulting in a product , if any, without the GTPAse activating domain. The variant affects major biological transcripts and is consistent with loss of function disease mechanism of TSC2.The variant is absent in public databases. Therefore, this c.4570-1G>A variant in the TSC2 gene is classified as likely pathogenic. |
Genome- |
RCV000824388 | SCV002040208 | likely pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002260671 | SCV002540428 | uncertain significance | not provided | 2023-09-11 | criteria provided, single submitter | clinical testing | Canonical splice site variant with an unclear effect on protein function, although loss of an in-frame exon is predicted; Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); This variant has not been reported in the literature in individuals with tuberous sclerosis complex (TSC) to our knowledge; Also known as IVS34-1 G>A; This variant is associated with the following publications: (PMID: 17304050, 10205261, 18466115, 16199547, 31447099) |
Baylor Genetics | RCV003461290 | SCV004205111 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-01-01 | criteria provided, single submitter | clinical testing |