Genetic Test Report Library
Twelve worked neurogenetic scenarios across pathogenic, VUS, carrier, structural, and special variant types. Each is rendered as a realistic lab report; click any field to reveal a teaching annotation.
Pathogenic
PDe novo pathogenic missense — SCN1A
Missense · de novo
Single-hit autosomal-dominant diagnosis. How "de novo" earns PS2.
Pathogenic
PCompound heterozygous pathogenic variants — POLG
Compound het · in trans
Two P variants in trans confirm a recessive diagnosis. Why phase matters.
Pathogenic
PDe novo frameshift — SYNGAP1
Frameshift · de novo · LoF
How loss-of-function in a haploinsufficient gene earns PVS1.
Pathogenic
PCanonical splice acceptor — ATM
Splice ±1 · canonical
Why ±1/±2 splice variants are PVS1 but +5 variants need more evidence.
Structural
PPartial gene deletion — DMD
Exonic CNV · X-linked
Reading-frame rule: which DMD deletions cause Duchenne vs Becker?
Structural
PHomozygous deletion — SMN1
Homozygous CNV · AR
How an AR diagnosis lands without any HGVS c. notation. SMN2 modifier.
Carrier
CarrierSingle heterozygous variant in AR gene — carrier status
Single het · AR gene
One het hit in an AR gene = carrier, not diagnosis. Reproductive counseling.
VUS
VUSMissense VUS — CACNA1A
Missense · VUS · unknown origin
The baseline VUS: novel missense + unknown origin. Why parental testing is the path forward.
VUS
PP + VUS in trans (AR gene) — "do we have a diagnosis?"
Compound · P + VUS · in trans
When phenotype + trans-with-P pull a VUS toward LP. PM3, segregation, and how the case story matters.
VUS
VUSSynonymous variant at exon boundary — predicted splice impact
Synonymous · SpliceAI 0.86 · VUS
Synonymous ≠ benign. SpliceAI evidence as PP3. How RNA studies would resolve.
Special
PCAG repeat expansion — HTT
Repeat expansion · AD · anticipation
No HGVS c. notation — threshold-based pathogenicity and anticipation.
Special
PMitochondrial m.3243A>G with heteroplasmy reporting
mtDNA · heteroplasmy · maternal
Heteroplasmy %, tissue variability, and why maternal inheritance is not "from the mother in the normal sense".