Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465567 | SCV000544493 | benign | Tuberous sclerosis 2 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329033 | SCV002631517 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-30 | criteria provided, single submitter | clinical testing | The p.P1401A variant (also known as c.4201C>G), located in coding exon 33 of the TSC2 gene, results from a C to G substitution at nucleotide position 4201. The proline at codon 1401 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other 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 |
RCV003128805 | SCV003805455 | uncertain significance | not provided | 2023-02-22 | 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 |