Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807899 | SCV000947979 | uncertain significance | Tuberous sclerosis 2 | 2018-09-13 | 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 disrupts the p.Cys696 amino acid residue in TSC2. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 10205261), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individuals with tuberous sclerosis complex (PMID: 16981987, 14641237, 21510812). ClinVar contains an entry for this variant (Variation ID: 50105). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 696 of the TSC2 protein (p.Cys696Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. |
Tuberous sclerosis database |
RCV000043372 | SCV000067178 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |