Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000490848 | SCV000579583 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-12-30 | criteria provided, single submitter | clinical testing | The c.3777delC pathogenic mutation, located in coding exon 30 of the TSC2 gene, results from a deletion of one nucleotide at position 3777, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Invitae | RCV002523430 | SCV003343238 | pathogenic | Tuberous sclerosis 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1259Argfs*66) 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: 427987). For these reasons, this variant has been classified as Pathogenic. |