diskin-lab-chop / AutoGVP

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Bug: Variants with resolved ClinVar calls are reporting Intervar call in final output #122

Closed rjcorb closed 1 year ago

rjcorb commented 1 year ago

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There are variant with conflicting ClinVar interpretations that are resolved by analyzing submissions, but in final output the Intervar call is taken despite ClinVar being listed as reasoning. For example:

chr start ref alt rs_id gene_symbol_vep variant_classification_vep HGVSg HGVSc HGVSp autogvp_call autogvp_call_reason clinvar_stars clinvar_clinsig intervar_evidence gnomad_3_1_1_AF_non_cancer
chr17 7675189 G C rs1057519977 TP53 missense_variant chr17:g.7675189G>C c.423C>G p.Cys141Trp Uncertain_significance ClinVar 1NR Likely pathogenic InterVar: Uncertain significance PVS1=0 PS=[0, 0, 0, 0, 0] PM=[1, 1, 0, 0, 0, 0, 0] PP=[0, 0, 1, 0, 0, 0] BA1=0 BS=[0, 0, 0, 0, 0] BP=[0, 0, 0, 0, 0, 0, 0, 0] 0

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naqvia commented 1 year ago

Good catch. 1NRs shouldn't be going into the intervar re-calculation steps, so it could just be we not filtering it since they are labeled correctly. I think id like to merge the latest PRs, and see if this issue persists before tackling this bc there a lot of nuanced changes and the test data should pick this up as well.