Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485831 | SCV000566402 | pathogenic | not provided | 2015-04-27 | criteria provided, single submitter | clinical testing | The c.4316delG variant in the TSC2 gene has been reported previously in association with tuberoussclerosis (TSC2 LOVD). The deletion causes a frameshift starting with codon Glycine 1439, changes thisamino acid to a Alanine residue and creates a premature Stop codon at position 37 of thenew reading frame, denoted p.Gly1439AlafsX37. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret this variant as pathogenic. |
Invitae | RCV001853096 | SCV002234229 | pathogenic | Tuberous sclerosis 2 | 2022-01-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 65273). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1439Alafs*37) 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). |
Tuberous sclerosis database |
RCV000055494 | SCV000083716 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |