CDH2 · rs199984052
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What ClinVar records
Classification
Uncertain significance for Inborn genetic diseases; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2025-12-14.
ClinVar record 2182016 NM_001792.5(CDH2):c.2027A>T (p.Tyr676Phe)
Classification
Pathogenic for CDH2-related disorder, Corpus callosum, agenesis of, Axon pathfinding, cardiac, ocular and genital defects, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, Syndromic neurodevelopmental disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2025-07-17.
ClinVar record 804251 NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
Source: ClinVar VCV000804251, criteria provided, multiple submitters, no conflicts
rs199984052 is a single position in the genome, in or near the CDH2 gene. Published research associates it with cdh2-related disorder. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
ClinVar VCV000804251, criteria provided, multiple submitters, no conflicts. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
CDH2-related disorder (rs199984052). MyGeneLog™. https://www.mygenelog.com/variants/rs199984052