Sensitive

Brittle cornea syndrome 1

ZNF469 · rs387907063

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.

How this is scored

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 Brittle cornea syndrome 1, Cardiovascular phenotype; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2026-02-13. ClinVar record 1029104 NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys)

Classification Pathogenic for Brittle cornea syndrome 1; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2010-10-01. ClinVar record 30943 NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter)

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.

What each result means

G/G No copy of the version ClinVar lists as disease-causing for Brittle cornea syndrome 1. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000030943, no assertion criteria provided)

G/T One copy of the version ClinVar lists as disease-causing for Brittle cornea syndrome 1. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000030943, no assertion criteria provided)

T/T Two copies of the version ClinVar lists as disease-causing for Brittle cornea syndrome 1. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000030943, no assertion criteria provided)

Source: ClinVar VCV000030943, no assertion criteria provided

Quoting this page

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

Brittle cornea syndrome 1 (rs387907063). MyGeneLog™. https://www.mygenelog.com/variants/rs387907063

← See all variants