Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011750 | SCV001172108 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-24 | criteria provided, single submitter | clinical testing | The p.N49T variant (also known as c.146A>C), located in coding exon 3 of the SDHC gene, results from an A to C substitution at nucleotide position 146. The asparagine at codon 49 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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. |
Baylor Genetics | RCV003473568 | SCV004203053 | uncertain significance | Gastrointestinal stromal tumor | 2023-10-16 | criteria provided, single submitter | clinical testing |