Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000042636 | SCV000711727 | pathogenic | Tuberous sclerosis syndrome | 2015-11-17 | criteria provided, single submitter | clinical testing | The p.Gln200X variant in TSC2 has been previously reported in 1 individual with Tuberous Sclerosis Complex (TSC) (Langkau 2002). It was absent from large popula tion studies (dbSNP rs45517115). This nonsense variant leads to a premature term ination codon at position 200, which is predicted to lead to a truncated or abse nt protein. Heterozygous loss of TSC2 function is an established disease mechani sm in TSC. In summary, this variant meets our criteria to be classified as path ogenic for TSC in an autosomal dominant manner. |
Tuberous sclerosis database |
RCV000042636 | SCV000066431 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |