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ClinGen HBOP VCEP Curation of ATM Variants Associa ...
ClinGen HBOP VCEP Curation of ATM Variants Associated with Ataxia-Telangiectasia
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The document discusses the curation of ATM variants associated with Ataxia-Telangiectasia by the ClinGen HBOP VCEP. The study involved developing rules specific to ATM variants, curating variants using these rules, and submitting classifications to ClinVar for community use. A focus was placed on variants reported in Ataxia-Telangiectasia patient cohorts to prioritize clinically relevant interpretations. The study used a PM3 code that considered patient phenotype, variant phase, second variant classification, and avoided double-counting patients. PM3 application led to significant reclassification of variants, with 26 classified as Pathogenic, 7 as Likely Pathogenic, and 2 as VUS. Variants identified in A-T patients meeting PM3 guidelines were deemed strong indicators of pathogenicity, especially for missense or in-frame impact variants. The variant curation process demonstrated increased efficiency and accuracy in classification, highlighting the importance of incorporating PM3 guidelines for variant interpretation in genetic disorders.
Keywords
ATM variants
Ataxia-Telangiectasia
ClinGen HBOP VCEP
variant curation
ClinVar
PM3 code
pathogenic variants
variant interpretation
genetic disorders
variant classification
Marcy Richardson (mrichardson@ambrygen.com)
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