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Sensitive

Monogenic diabetes

GCK · rs193922292

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 Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young, Monogenic diabetes; reviewed by expert panel (3 of 4 stars, 3 submitters), last evaluated 2024-01-18. ClinVar record 36212 NM_000162.5(GCK):c.322T>G (p.Tyr108Asp)

Classification Pathogenic for Monogenic diabetes, GCK-related disorder; reviewed by expert panel (3 of 4 stars, 5 submitters), last evaluated 2023-12-15. ClinVar record 585918 NM_000162.5(GCK):c.322T>C (p.Tyr108His)

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 disease-causing for Monogenic diabetes. This is the usual result. (ClinVar VCV000585918, reviewed by expert panel)
A/G One copy of the version ClinVar lists as disease-causing for Monogenic diabetes. 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 VCV000585918, reviewed by expert panel)
G/G Two copies of the version ClinVar lists as disease-causing for Monogenic diabetes. 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 VCV000585918, reviewed by expert panel)

Source: ClinVar VCV000585918, reviewed by expert panel

Quoting this page

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Monogenic diabetes (rs193922292). MyGeneLog™. https://www.mygenelog.com/variants/rs193922292

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