Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001489636 | SCV001694183 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2023-06-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002439175 | SCV002747973 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-10 | criteria provided, single submitter | clinical testing | The c.279C>T variant (also known as p.C93C), located in coding exon 3 of the SDHB gene, results from a C to T substitution at nucleotide position 279. This nucleotide substitution does not change the at codon 93. However, this change occurs in the base pair of coding exon 3, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |