INDVar: From Variant Discovery to Functional validation

Rare genetic diseases collectively affect millions of individuals worldwide, and India, with its vast and genetically diverse population, carries a significant yet under-characterised burden of these conditions. Despite advances in genomic technologies such as next-generation sequencing, a major challenge in clinical genomics remains the interpretation of identified variants. A substantial proportion of variants detected in patients are classified as Variants of Uncertain Significance (VOUS), where insufficient evidence prevents definitive classification as pathogenic or benign. This uncertainty creates a critical bottleneck in clinical decision- making, genetic counselling, and patient management.

One of the key reasons for this challenge is the lack of population-specific genomic databases. Most existing global variant databases are heavily inclined towards European populations, leading to underrepresentation of Indian genetic diversity. As a result, many variants identified in Indian patients remain poorly annotated or misclassified, limiting their clinical utility. In addition, there is often a lack of systematic documentation of rare variants observed in clinical practice nationwide.

Variant

162

Gene

157

Clinician/ Variant Submitter

Researcher

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INDVar: From Variant Discovery to Functional validation

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