Sensitive

Joubert syndrome 23

KIAA0586 · rs376338487

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 Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Inborn genetic diseases; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2025-07-24. ClinVar record 1375973 NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln)

Classification Pathogenic for Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2019-08-28. ClinVar record 940430 NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter)

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 Joubert syndrome 23. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000940430, criteria provided, single submitter)

G/T One copy of the version ClinVar lists as disease-causing for Joubert syndrome 23. 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. So far only one lab has made this call, so it may change. (ClinVar VCV000940430, criteria provided, single submitter)

T/T Two copies of the version ClinVar lists as disease-causing for Joubert syndrome 23. 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. So far only one lab has made this call, so it may change. (ClinVar VCV000940430, criteria provided, single submitter)

Source: ClinVar VCV000940430, criteria provided, single submitter

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

Joubert syndrome 23 (rs376338487). MyGeneLog™. https://www.mygenelog.com/variants/rs376338487

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