TDP2 Variant Data: Clinical and Functional Characterization in SCAR23 Patients

Edoardo Errichiello from the University of Pavia published a study characterizing a novel loss-of-function variant in the TDP2 gene. The dataset likely contains clinical and functional assay data from two adult Italian siblings with spinocerebellar ataxia autosomal recessive 23 (SCAR23). Findings support the pathogenic role of biallelic TDP2 variants and detail the adult clinical phenotype.

Use Cases

• Train variant pathogenicity classifiers based on clinical phenotype data.
• Analyze genotype-phenotype correlations for SCAR23 based on patient age and symptom progression.
• Benchmark functional assay results for DNA repair gene variants.

Strengths

• Data includes functional assay results demonstrating defective DNA repair.
• Clinical characterization includes an extensive follow-up of adult patients, aged 39 and 43.
• Findings are based on whole-exome sequencing identifying a novel splice-site variant.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Dataset scale is very small, focusing on only two patients from a single pedigree.

Provenance

Source

University of Pavia

Collection Method

Whole-exome sequencing and functional assays on patient fibroblasts.

Geography

Italy