Sensitive

Intellectual disability-severe speech delay-mild dysmorphism syndrome

FOXP1 · rs775136381

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 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 Intellectual disability-severe speech delay-mild dysmorphism syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2025-12-03. ClinVar record 379850 NM_001349338.3(FOXP1):c.1489C>T (p.Arg497Ter)

Classification Likely benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-07-10. ClinVar record 2068620 NM_001349338.3(FOXP1):c.1489C>G (p.Arg497Gly)

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 Intellectual disability-severe speech delay-mild dysmorphism 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 VCV000379850, criteria provided, multiple submitters, no conflicts)
A/G One copy of the version ClinVar lists as disease-causing for Intellectual disability-severe speech delay-mild dysmorphism 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 VCV000379850, criteria provided, multiple submitters, no conflicts)
G/G No copy of the version ClinVar lists as disease-causing for Intellectual disability-severe speech delay-mild dysmorphism syndrome. This is the usual result. (ClinVar VCV000379850, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000379850, criteria provided, multiple submitters, no conflicts

Questions about rs775136381

What is rs775136381?

rs775136381 is a single position in the genome, in or near the FOXP1 gene. Published research associates it with intellectual disability-severe speech delay-mild dysmorphism syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs775136381 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 rs775136381 come from?

ClinVar VCV000379850, 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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Intellectual disability-severe speech delay-mild dysmorphism syndrome (rs775136381). MyGeneLog™. https://www.mygenelog.com/variants/rs775136381

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