Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229314 | SCV000285483 | likely benign | Tuberous sclerosis 2 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV003237787 | SCV002011315 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000229314 | SCV002040579 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372262 | SCV002686545 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing | The p.Y310C variant (also known as c.929A>G), located in coding exon 9 of the TSC2 gene, results from an A to G substitution at nucleotide position 929. The tyrosine at codon 310 is replaced by cysteine, an amino acid with highly dissimilar 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. |