Standard

Congenital contractural arachnodactyly

FBN2 · rs587776518

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

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 of 4 stars.

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 Pathogenic for Congenital contractural arachnodactyly; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2020-02-24. ClinVar record 957340 NM_001999.4(FBN2):c.4346-2A>G

Classification Likely pathogenic for Familial thoracic aortic aneurysm and aortic dissection; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2017-01-30. ClinVar record 1739885 NM_001999.4(FBN2):c.4346-2A>C

Classification Pathogenic for Congenital contractural arachnodactyly; no assertion criteria provided (0 of 4 stars, 2 submitters), last evaluated 1996-11-01. ClinVar record 522 NM_001999.4(FBN2):c.4346-2A>T

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

A/A Two copies of the version ClinVar lists as disease-causing for Congenital contractural arachnodactyly. 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 VCV000000522, no assertion criteria provided)

A/T One copy of the version ClinVar lists as disease-causing for Congenital contractural arachnodactyly. 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 VCV000000522, no assertion criteria provided)

T/T No copy of the version ClinVar lists as disease-causing for Congenital contractural arachnodactyly. 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 VCV000000522, no assertion criteria provided)

Source: ClinVar VCV000000522, 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

Congenital contractural arachnodactyly (rs587776518). MyGeneLog™. https://www.mygenelog.com/variants/rs587776518

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