Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020781 | SCV001182305 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-09 | criteria provided, single submitter | clinical testing | The c.363G>T variant (also known as p.K121N), located in coding exon 3 of the TSC1 gene, results from a G to T substitution at nucleotide position 363. The amino acid change results in lysine to asparagine at codon 121, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 3, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. This alteration has been identified in an individual with an established clinical diagnosis of tuberous sclerosis (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic |