Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548577 | SCV000644549 | benign | Tuberous sclerosis 2 | 2023-04-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571084 | SCV000675694 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-09 | criteria provided, single submitter | clinical testing | The p.I1518V variant (also known as c.4552A>G), located in coding exon 34 of the TSC2 gene, results from an A to G substitution at nucleotide position 4552. The isoleucine at codon 1518 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well 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. |
Gene |
RCV001546708 | SCV001766273 | likely benign | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Observed in 0.0016% (4/250406 alleles) in large population cohorts (Lek et al., 2016) |
Genome- |
RCV000548577 | SCV002040205 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571084 | SCV002533943 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-09 | criteria provided, single submitter | curation |