Sensitive

Aneurysm-osteoarthritis syndrome

SMAD3 · rs1320208623

Where this position leads

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 Familial thoracic aortic aneurysm and aortic dissection; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2026-03-18. ClinVar record 1044963 NM_005902.4(SMAD3):c.991G>A (p.Val331Ile)

Classification Likely pathogenic for Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2022-01-24. ClinVar record 694385 NM_005902.4(SMAD3):c.991G>T (p.Val331Phe)

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 likely disease-causing for Aneurysm-osteoarthritis syndrome. This is the usual result. (ClinVar VCV000694385, criteria provided, multiple submitters, no conflicts)

G/T One copy of the version ClinVar lists as likely disease-causing for Aneurysm-osteoarthritis syndrome. 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. (ClinVar VCV000694385, criteria provided, multiple submitters, no conflicts)

T/T Two copies of the version ClinVar lists as likely disease-causing for Aneurysm-osteoarthritis syndrome. 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. (ClinVar VCV000694385, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000694385, criteria provided, multiple submitters, no conflicts

Questions about rs1320208623

What is rs1320208623?

rs1320208623 is a single position in the genome, in or near the SMAD3 gene. Published research associates it with aneurysm-osteoarthritis syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1320208623 linked to?

On MyGeneLog this position is linked to Osteoarthritis. The research behind each link, and its sources, are set out on that condition page.

Does having rs1320208623 mean I will get this?

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.

Where does the information about rs1320208623 come from?

ClinVar VCV000694385, 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.

Quoting this page

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Aneurysm-osteoarthritis syndrome (rs1320208623). MyGeneLog™. https://www.mygenelog.com/variants/rs1320208623

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