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6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

PTS · rs772285014

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 Likely pathogenic for 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2025-11-30. ClinVar record 2144321 NM_000317.3(PTS):c.84-2A>G

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 No copy of the version ClinVar lists as likely disease-causing for 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency. This is the usual result. (ClinVar VCV002144321, criteria provided, multiple submitters, no conflicts)

A/G One copy of the version ClinVar lists as likely disease-causing for 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency. 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 VCV002144321, criteria provided, multiple submitters, no conflicts)

G/G Two copies of the version ClinVar lists as likely disease-causing for 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency. 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 VCV002144321, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV002144321, 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

6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (rs772285014). MyGeneLog™. https://www.mygenelog.com/variants/rs772285014

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