Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547996 | SCV000644572 | likely benign | Tuberous sclerosis 2 | 2023-03-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002330908 | SCV002634017 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-09 | criteria provided, single submitter | clinical testing | The p.Y1608C variant (also known as c.4823A>G), located in coding exon 36 of the TSC2 gene, results from an A to G substitution at nucleotide position 4823. The tyrosine at codon 1608 is replaced by cysteine, an amino acid with highly dissimilar 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. |