Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190022 | SCV000243694 | pathogenic | not provided | 2014-06-12 | criteria provided, single submitter | clinical testing | p.Trp1208Stop (W1208X) TGG>TGA: c.3624 G>A in exon 31 of the TSC2 gene (NM_000548.3)The W1208X nonsense mutation in the TSC2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. A different nucleotide substitution (c.3623 G>A) resulting in the same mutation (p.W1208X) has been reported as pathogenic in two patients in the TSC2 mutation database (TSC LOVD). This nucleotide substitution has not been reported previously to our knowledge. The variant is found in INFANT-EPI panel(s). |
Invitae | RCV002517023 | SCV003473268 | pathogenic | Tuberous sclerosis 2 | 2022-05-28 | 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: 207747). This premature translational stop signal has been observed in individual(s) with a clinical diagnosis and/or features of tuberous sclerosis complex (PMID: 29655203, 32211034, 32313033). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1208*) 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). |