GenVue Discovery

Variant Report

Curation

Conditions reviewed by experts

Below are conditions that were reviewed by an expert panel and/or are in the Genetic Testing Registry (GTR) according to ClinVar. The data presented does not diagnose disease and has no guarantees of reporting accuracy. We report heterozygous variants as yellow and homozygous variants as red. A red or yellow variant does not necessarily mean one has or carries a condition or disease. This is for research and educational purposes only.

Gene: APOE
Variant: c.388T>C
(p.Cys130Arg)
rsID: rs429358
Ref Allele: T
Alt Allele: C
Freq: 15.0559%
CADD: 12.64

ClinVar Submissions (3)

High clinical importance, pathogenic — This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).

Expert Reviewed Clinically Significant

Hetero

CT

Gene: CCDC170
Variant: g.151627231G>A
rsID: rs2046210
Ref Allele: G
Alt Allele: A
Freq: 41.2141%
CADD: 3.559

ClinVar Submissions (1)

Expert Reviewed Clinically Significant Likely pathogenic

Hetero

AG

Gene: SPINK1
Variant: c.101A>G
(p.Asn34Ser)
rsID: rs17107315
Ref Allele: T
Alt Allele: C
Freq: 0.639%rare
CADD: 0.165

ClinVar Submissions (8)

Expert Reviewed Clinically Significant Conflicting/Uncertain

Hetero

CT

Gene: GJB2
Variant: c.71G>A
(p.Trp24Ter)
rsID: rs104894396
Ref Allele: C
Alt Allele: T
Freq: 0.0399%rare
CADD: 42

ClinVar Submissions (17)

Expert Reviewed Clinically Significant Pathogenic

Hetero

CT