Standard

Radioulnar synostosis

SMAD6 · rs570279865

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 Aortic valve disease 2; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2025-07-27. ClinVar record 1006378 NM_005585.5(SMAD6):c.859G>A (p.Glu287Lys)

Classification Uncertain significance for SMAD6-related disease; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-10-25. ClinVar record 2635473 NM_005585.5(SMAD6):c.859G>C (p.Glu287Gln)

Classification Pathogenic for Radioulnar synostosis; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2020-06-20. ClinVar record 1174552 NM_005585.5(SMAD6):c.859G>T (p.Glu287Ter)

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.

How common each version is

AG

World gnomAD

G 100.0%

World 1000 Genomes

A 0.0% · G 100.0%

World TOPMed

A 0.0% · G 100.0%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. No Korean figure for this position yet.

What each result means

G/G No copy of the version ClinVar lists as disease-causing for Radioulnar synostosis. 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 VCV001174552, no assertion criteria provided)

G/T One copy of the version ClinVar lists as disease-causing for Radioulnar synostosis. 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 VCV001174552, no assertion criteria provided)

T/T Two copies of the version ClinVar lists as disease-causing for Radioulnar synostosis. 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 VCV001174552, no assertion criteria provided)

Source: ClinVar VCV001174552, 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

Radioulnar synostosis (rs570279865). MyGeneLog™. https://www.mygenelog.com/variants/rs570279865

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