Sensitive

Malan overgrowth syndrome

NFIX · rs1555696603

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 Malan overgrowth syndrome, NFIX-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2024-11-01. ClinVar record 559943 NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp)

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 No copy of the version ClinVar lists as disease-causing for Malan overgrowth syndrome. This is the usual result. (ClinVar VCV000559943, criteria provided, multiple submitters, no conflicts)
C/T One copy of the version ClinVar lists as disease-causing for Malan overgrowth 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 VCV000559943, criteria provided, multiple submitters, no conflicts)
T/T Two copies of the version ClinVar lists as disease-causing for Malan overgrowth 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 VCV000559943, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000559943, criteria provided, multiple submitters, no conflicts

Questions about rs1555696603

What is rs1555696603?

rs1555696603 is a single position in the genome, in or near the NFIX gene. Published research associates it with malan overgrowth syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1555696603 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 rs1555696603 come from?

ClinVar VCV000559943, 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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Malan overgrowth syndrome (rs1555696603). MyGeneLog™. https://www.mygenelog.com/variants/rs1555696603

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