Sensitive

Inborn genetic diseases

PNPT1 · rs2627765

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

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 Benign for Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, Germ cell tumor of testis; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 7 submitters), last evaluated 2026-02-04. ClinVar record 138737 NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)

Classification Pathogenic for Inborn genetic diseases; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2024-05-05. ClinVar record 985545 NM_033109.5(PNPT1):c.1390C>T (p.Arg464Ter)

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 2026-11-09 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.

How common each version is

GT

Korean KRGDB

G 81.7% · T 18.3%

Korean Korea4K

G 83.0% · T 17.0%

Korean Korea1K

G 82.6% · T 17.4%

Japanese ToMMo

G 82.2% · T 17.8%

Vietnamese

G 85.2% · T 14.8%

World gnomAD

G 51.7% · T 48.3%

World 1000 Genomes

G 64.3% · T 35.7%

World TOPMed

G 53.3% · T 46.7%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A Two copies of the version ClinVar lists as disease-causing for Inborn genetic diseases. 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 VCV000985545, criteria provided, multiple submitters, no conflicts)

A/G One copy of the version ClinVar lists as disease-causing for Inborn genetic diseases. 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 VCV000985545, criteria provided, multiple submitters, no conflicts)

G/G No copy of the version ClinVar lists as disease-causing for Inborn genetic diseases. This is the usual result. (ClinVar VCV000985545, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000985545, 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

Inborn genetic diseases (rs2627765). MyGeneLog™. https://www.mygenelog.com/variants/rs2627765

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