Sensitive

Joubert syndrome

INPP5E · rs753398503

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 Likely benign for Joubert syndrome, INPP5E-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2025-12-08. ClinVar record 1608587 NM_019892.6(INPP5E):c.1629C>T (p.Tyr543=)

Classification Pathogenic for Joubert syndrome, INPP5E-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2025-01-23. ClinVar record 1069370 NM_019892.6(INPP5E):c.1629C>G (p.Tyr543Ter)

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

C/C Two copies of the version ClinVar lists as disease-causing for Joubert 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 VCV001069370, criteria provided, multiple submitters, no conflicts)

C/G One copy of the version ClinVar lists as disease-causing for Joubert 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 VCV001069370, criteria provided, multiple submitters, no conflicts)

G/G No copy of the version ClinVar lists as disease-causing for Joubert syndrome. This is the usual result. (ClinVar VCV001069370, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV001069370, criteria provided, multiple submitters, no conflicts

Questions about rs753398503

What is rs753398503?

rs753398503 is a single position in the genome, in or near the INPP5E gene. Published research associates it with joubert 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 rs753398503 linked to?

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

Does having rs753398503 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 rs753398503 come from?

ClinVar VCV001069370, 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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Joubert syndrome (rs753398503). MyGeneLog™. https://www.mygenelog.com/variants/rs753398503

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