Sensitive

Hirschsprung disease, susceptibility to, 1

RET · rs76449634

Where this position leads

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 Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2, RET-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2021-02-16. ClinVar record 13925 NM_020975.6(RET):c.538C>T (p.Arg180Ter)

Classification Uncertain significance for Hereditary cancer-predisposing syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-09-16. ClinVar record 3227562 NM_020975.6(RET):c.538C>G (p.Arg180Gly)

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 Hirschsprung disease, susceptibility to, 1. This is the usual result. (ClinVar VCV000013925, criteria provided, multiple submitters, no conflicts)

C/T One copy of the version ClinVar lists as disease-causing for Hirschsprung disease, susceptibility to, 1. 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 VCV000013925, criteria provided, multiple submitters, no conflicts)

T/T Two copies of the version ClinVar lists as disease-causing for Hirschsprung disease, susceptibility to, 1. 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 VCV000013925, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000013925, criteria provided, multiple submitters, no conflicts

Questions about rs76449634

What is rs76449634?

rs76449634 is a single position in the genome, in or near the RET gene. Published research associates it with hirschsprung disease, susceptibility to, 1. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs76449634 linked to?

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

Does having rs76449634 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 rs76449634 come from?

ClinVar VCV000013925, 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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Hirschsprung disease, susceptibility to, 1 (rs76449634). MyGeneLog™. https://www.mygenelog.com/variants/rs76449634

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