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Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

ACVRL1 · rs121909289

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

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/Likely pathogenic for Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2024-12-04. ClinVar record 8255 NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)

Classification Pathogenic/Likely pathogenic for Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype, ACVRL1-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2023-11-07. ClinVar record 857852 NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter)

Classification Pathogenic for Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia; no assertion criteria provided (0 of 4 stars, 1 submitter). ClinVar record 426027 NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu)

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 Two copies of the version ClinVar lists as disease-causing or likely disease-causing for Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia. 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 VCV000008255, criteria provided, multiple submitters, no conflicts)

C/G One copy of the version ClinVar lists as disease-causing or likely disease-causing for Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia. 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 VCV000008255, criteria provided, multiple submitters, no conflicts)

G/G No copy of the version ClinVar lists as disease-causing or likely disease-causing for Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia. This is the usual result. (ClinVar VCV000008255, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000008255, criteria provided, multiple submitters, no conflicts

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

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia (rs121909289). MyGeneLog™. https://www.mygenelog.com/variants/rs121909289

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