For Newly Diagnosed Families

Understanding Your Genetic Report

You just received a report full of strange notation and medical jargon. You may not know where to start. This page is written for you — in plain language, without assuming any medical background.

Previous: Symptoms & Daily Management Next: CLTC Mutation Types

Understanding Your Genetic Report

Decoding the notation: what does “NM_004859.4(CLTC):c.2804G>A (p.Arg935His)” mean?Understanding HGVS nomenclature on your genetic report

What is a “variant”?Typos in the instruction manual

Types of variants: what category is my child’s?Missense, nonsense, frameshift, splice-site, and silent

What does “heterozygous” mean? And “autosomal dominant”?De novo variants, mosaicism, and inheritance

What does “pathogenic” actually mean for my child?Classification and what it does — and does not — predict

Questions to bring to your geneticistA practical list for your next appointment

The most important thing we can tell youYou are not alone in this