Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Purpose: Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required for the interpretation of these two variants. Methods: The ClinGen Hearing Loss Expert Panel collected published data and shared unpublished information from contributing laboratories and clinics regarding the two variants. Functional, computational, allelic, and segregation data were also obtained. Case-control statistical analyses were performed. Results: The panel reviewed the synthesized information, and classified the p.Met34Thr and p.Val37Ile variants utilizing professional variant interpretation guidelines and professional judgment. We found that p.Met34Thr and p.Val37Ile are significantly overrepresented in hearing loss patients, compared with population controls. Individuals homozygous or compound heterozygous for p.Met34Thr or p.Val37Ile typically manifest mild to moderate hearing loss. Several other types of evidence also support pathogenic roles for these two variants. Conclusion: Resolving controversies in variant classification requires coordinated effort among a panel of international multi-institutional experts to share data, standardize classification guidelines, review evidence, and reach a consensus. We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance

An autoethnography of working-class education

University of Minnesota M.A. thesis. April 2013. Advisor: Timothy J. Lensmire. 1 computer file (PDF); iii, 74 pages. Major: Education, Curriculum and Instruction.This thesis tells the story of the author's elementary and secondary education in public school in southwestern Pennsylvania, through anecdotes and first-person narration. In analytical chapters, the author examines the events through the lens of critical literacy education theories, including those of Paolo Freire, Valerie Walkerdine, Timothy Lensmire, and others. With a particular emphasis on the ways in which social class influenced her education, she also examines the effect of the label "gifted" on her educational outcomes, including her participation in the Pennsylvania Governor's School program for intellectually gifted students. She concludes by considering the importance of education in the lives of working-class students who will not pursue intellectual career paths and offers advice to teachers for reaching these students.Moyer, Krista E.. (2013). An autoethnography of working-class education. Retrieved from the University Digital Conservancy, https://hdl.handle.net/11299/152327