Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190065 | SCV000243740 | pathogenic | not provided | 2014-12-16 | criteria provided, single submitter | clinical testing | c.352dupG: p.Val118GlyfsX8 (V118GfsX8) in exon 5 of the TSC2 gene (NM_000548.3) The normal sequence with the base that is duplicated in braces is: TGGGG{G}TCCTThe c.352dupG mutation in the TSC2 gene causes a frameshift starting with codon Valine 118, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Val118GlyfsX8. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, other frameshift mutations have been reported in the TSC2 gene in association with tuberous sclerosis (TSC2 LOVD). The variant is found in TUBSC-EPIV2-1 panel(s). |
Invitae | RCV001852879 | SCV002148018 | pathogenic | Tuberous sclerosis 2 | 2021-11-28 | 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: 49262). 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.Val118Glyfs*8) 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). |
Ambry Genetics | RCV002453338 | SCV002614846 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-03 | criteria provided, single submitter | clinical testing | The c.352dupG pathogenic mutation, located in coding exon 4 of the TSC2 gene, results from a duplication of G at nucleotide position 352, causing a translational frameshift with a predicted alternate stop codon (p.V118Gfs*8). 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. |
Tuberous sclerosis database |
RCV000042521 | SCV000066312 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |