Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535476 | SCV000644631 | benign | Tuberous sclerosis 2 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821554 | SCV002071968 | uncertain significance | not specified | 2021-11-04 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the TSC2 gene demonstrated a sequence change, c.5320A>G, in exon 42 that results in an amino acid change, p.Ser1774Gly. This sequence change does not appear to have been previously described in individuals with TSC2-related disorders. This sequence change has been described in the gnomAD database in two individuals which corresponds to a population frequency of 0.00071% (dbSNP rs368083145). The p.Ser1774Gly change affects a poorly conserved amino acid residue located in a domain of the TSC2 protein that is not known to be functional. The p.Ser1774Gly substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Ser1774Gly change remains unknown at this time. |
Ambry Genetics | RCV002350300 | SCV002647275 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-09 | criteria provided, single submitter | clinical testing | The p.S1774G variant (also known as c.5320A>G), located in coding exon 41 of the TSC2 gene, results from an A to G substitution at nucleotide position 5320. The serine at codon 1774 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |