Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491994 | SCV000579603 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-07-19 | criteria provided, single submitter | clinical testing | The p.E1442* pathogenic mutation (also known as c.4324G>T), located in coding exon 33 of the TSC2 gene, results from a G to T substitution at nucleotide position 4324. This changes the amino acid from a glutamic acid to a stop codon within coding exon 33. 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 | RCV003512050 | SCV004316298 | pathogenic | Tuberous sclerosis 2 | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1442*) 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 variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 427995). For these reasons, this variant has been classified as Pathogenic. |