A recent study in Cancer Genetics, International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma, is important for GIST patients who carry a germline SDHB mutation. More variants are now designated pathogenic and variants of unknown significance are reduced. Having this data in a public database will hopefully improve future surveillance.
This paper follows a consensus statement by the Para/Pheo NGS working group in 2015: https://pubmed.ncbi.nlm.nih.gov/27857127/
The data is now published in LOVD: https://databases.lovd.nl/shared/genes/SDHB
The significance of this study is the fact that it has reduced by half the number of variants that were previously identified as VUS, variants of unknown significance A total of 223 SDHB variants from 737 patients were collected worldwide.
Conclusion of the Study: This international initiative by a panel of experts allowed us to establish a consensus classification for 223 SDHB variants that should be used as a routine tool by geneticists in charge of PPGL laboratory diagnosis. This accurate classification of SDHB genetic variants will help to clarify the diagnosis of hereditary PPGL and to improve the clinical care of patients and relatives with PPGL.
