STRC Diagnosis, VUS Classification & Next Steps

STRC Diagnosis & VUS Guide

Context: Detailed guide on confirming STRC diagnosis when one variant is classified as VUS (Variant of Uncertain Significance).

Key Points

• Diagnosis “probable” not “confirmed” due to VUS classification of c.4976A>C p.(Glu1659Ala)
• Segregation analysis (test both parents) is the single most impactful next step
• Confirms variants sit on different chromosomes (compound heterozygous)
• Clinical picture overwhelmingly favors STRC: moderate, bilateral, symmetric SNHL

Genotype

• Allele 1: confirmed pathogenic 98kb deletion (STRC + CATSPER2)
• Allele 2: c.4976A>C p.(Glu1659Ala) - VUS
• Compound heterozygosity (deletion + point variant) is well-established pattern

Files

• English: ~/DeepResearch/2026-02-07-strc-diagnosis-vus-guide.md
• Russian: ~/DeepResearch/2026-02-07-strc-diagnosis-vus-guide-RU.md

Connections

• [see-also] Misha Medical Timeline

• [see-also] Misha 6-Month Action Plan 2026

• [see-also] Misha Diagnostic Assessments

• [see-also] France MDPH Disability Benefits

• [see-also] Misha Psychologist Session 2026-02-27

• [see-also] Allergy-Inflammation-Behavior Pathway

• [see-also] DR - Misha ADHD ASD Hearing Loss Management HK

• Deep Research - STRC Hearing Loss Treatment

• Deep Research - STRC Practical Guide HK