Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000760985 | SCV000890896 | pathogenic | Tuberous sclerosis 2 | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000760985 | SCV001511918 | uncertain significance | Tuberous sclerosis 2 | 2020-06-04 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to affect TSC2 protein function (PMID: 22903760). This variant has been observed in individual(s) with suspected tuberous sclerosis complex (PMID: 22903760). ClinVar contains an entry for this variant (Variation ID: 65281). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 448 of the TSC2 protein (p.Leu448Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
Genome- |
RCV000760985 | SCV002039536 | likely pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000055502 | SCV000083724 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |