Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190075 | SCV000243750 | pathogenic | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | Nonsense 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32211034, 25525159, 25782670, 15798777, 16114042, 16981987, 15121797, 10533066, 28065512, 24271014, 33807840, 31927531, 30036593, 30185235, 27535533, 11112665, 33278787) |
Athena Diagnostics Inc | RCV000201090 | SCV000255892 | pathogenic | Tuberous sclerosis 2 | 2015-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491678 | SCV000579608 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-10-20 | criteria provided, single submitter | clinical testing | The p.R1138* pathogenic mutation (also known as c.3412C>T), located in coding exon 29 of the TSC2 gene, results from a C to T substitution at nucleotide position 3412. This changes the amino acid from an arginine to a stop codon within coding exon 29. This pathogenic mutation has been reported in multiple unrelated individuals who met clinical criteria for tuberous sclerosis complex (TSC) (Mayer K et al. Hum. Mutat., 1999;14:401-11; Dabora SL et al. Am. J. Hum. Genet., 2001 Jan;68:64-80). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Invitae | RCV000201090 | SCV000644437 | pathogenic | Tuberous sclerosis 2 | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1138*) 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: 10533066, 16981987). ClinVar contains an entry for this variant (Variation ID: 49257). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV000190075 | SCV001747141 | pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000201090 | SCV002040973 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Division of Genomic Medicine, |
RCV000201090 | SCV002549156 | pathogenic | Tuberous sclerosis 2 | 2022-07-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483040 | SCV002788132 | pathogenic | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042516 | SCV000066307 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |