Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Cambridge Genomics Laboratory, |
RCV000043349 | SCV007131449 | pathogenic | Tuberous sclerosis syndrome | 2025-09-18 | criteria provided, single submitter | clinical testing | PVS1,PM2,PP4 |
| Gene |
RCV003153331 | SCV003842499 | pathogenic | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in patients with a clinical diagnosis of tuberous sclerosis complex in a well-curated database (TSC2 LOVD); This variant is associated with the following publications: (PMID: 16114042, 10533067, 26252095, 29740858, 31855466) |
| 3billion | RCV000989436 | SCV003842132 | pathogenic | Tuberous sclerosis 2 | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (PMID: 10533067). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
| Genome- |
RCV000989436 | SCV002040992 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000989436 | SCV001592673 | pathogenic | Tuberous sclerosis 2 | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1420Glyfs*55) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 10533067, 29740858, 31855466). ClinVar contains an entry for this variant (Variation ID: 50083). For these reasons, this variant has been classified as Pathogenic. |
| Mendelics | RCV000989436 | SCV001139759 | pathogenic | Tuberous sclerosis 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Tuberous sclerosis database |
RCV000043349 | SCV000067155 | not provided | Tuberous sclerosis syndrome | no classification provided | curation | ||
| Tuberous sclerosis database |
RCV000043349 | SCV000067154 | not provided | Tuberous sclerosis syndrome | flagged submission | curation |