Genetic knowledge is fast growing: new disease genes and novel disease-causing variants are detected almost every day. Diagnostic classification of genetic variants therefore is an ongoing process. Guidelines support us to decide on the evidence of such external and internal information for reliable classification of variants in rare disease genes especially enabling a trustful communication on validity of decisions.
This also implies that past classification decisions are systematically re-evaluated when evidence changes to increase the robustness of classification and reduce the probability of error. CENTOGENE has defined a clear process for variant classification and thereby exploits the growing knowledge for re-evaluation and re-classification of variants. In any case, all re-classification events are consistently communicated with our referring physicians; any re-classification affecting the nature of the genetic diagnosis is shared immediately.
Advantages of Our Variant Reclassification Program
Reliable diagnosis starts with a robust &
dynamic variant classification
Notifications for all patients affected by reclassification
As soon as new genetic evidence becomes available, it is shared with you. Thanks to our highly robust reclassification process, we reduce the uncertainty for patients and allow for better disease management.
Carrier testing in the NSD1 (OMIM®: 606681) gene. Reclassified from uncertain clinical significance (class 3) to likely pathogenic (class 2).
Added value of biochemical data in the classification process
CENTOGENE’s curated and classified variants in 7 metabolic genes (GAA, GBA, GLA, IDS, NPC1, NPC2 & SMPD1) were compared with ClinVar and HGMD®. The availability of biochemical data in addition to high quality clinical and genetic patient data allowed us to correctly classify variants misclassified in these databases. This prevented patients from the risk of an incorrect diagnosis or having their diagnosis missed altogether.