Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001441045 | SCV001643962 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 3 | 2022-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329495 | SCV002628620 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-03 | criteria provided, single submitter | clinical testing | The c.423A>G variant (also known as p.K141K), located in coding exon 6 of the SDHC gene, results from an A to G substitution at nucleotide position 423. This nucleotide substitution does not change the lysine at codon 141. 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. |