Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460360 | SCV000544326 | likely benign | Tuberous sclerosis 2 | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402240 | SCV002707769 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-15 | criteria provided, single submitter | clinical testing | The p.Y349C variant (also known as c.1046A>G), located in coding exon 10 of the TSC2 gene, results from an A to G substitution at nucleotide position 1046. The tyrosine at codon 349 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |