Standard

Hypertrophic cardiomyopathy

MYBPC3 · rs727503178

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 Uncertain significance for Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Cardiovascular phenotype; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2024-10-28. ClinVar record 925347 NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys)

Classification Uncertain significance for Cardiomyopathy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-12-04. ClinVar record 922957 NM_000256.3(MYBPC3):c.2965G>C (p.Glu989Gln)

Classification Likely pathogenic for Hypertrophic cardiomyopathy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-11-29. ClinVar record 164053 NM_000256.3(MYBPC3):c.2965G>T (p.Glu989Ter)

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 likely disease-causing for Hypertrophic cardiomyopathy. 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 VCV000164053, criteria provided, single submitter)

A/C One copy of the version ClinVar lists as likely disease-causing for Hypertrophic cardiomyopathy. 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 VCV000164053, criteria provided, single submitter)

C/C No copy of the version ClinVar lists as likely disease-causing for Hypertrophic cardiomyopathy. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000164053, criteria provided, single submitter)

Source: ClinVar VCV000164053, criteria provided, single submitter

Questions about rs727503178

What is rs727503178?

rs727503178 is a single position in the genome, in or near the MYBPC3 gene. Published research associates it with hypertrophic cardiomyopathy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs727503178 linked to?

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

Does having rs727503178 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 rs727503178 come from?

ClinVar VCV000164053, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Hypertrophic cardiomyopathy (rs727503178). MyGeneLog™. https://www.mygenelog.com/variants/rs727503178

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