Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877417 | SCV001020151 | likely benign | Tuberous sclerosis 1 | 2023-05-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346037 | SCV002649381 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-25 | criteria provided, single submitter | clinical testing | The p.H181R variant (also known as c.542A>G), located in coding exon 5 of the TSC1 gene, results from an A to G substitution at nucleotide position 542. The histidine at codon 181 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |