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Sensitive

Maturity-onset diabetes of the young

HNF4A · rs2515644908

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 Monogenic diabetes; reviewed by expert panel (3 of 4 stars, 1 submitter), last evaluated 2024-04-05. ClinVar record 3068534 NM_175914.5(HNF4A):c.194G>A (p.Ser65Asn)

Classification Likely pathogenic for Maturity-onset diabetes of the young; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2023-10-27. ClinVar record 2690995 NM_175914.5(HNF4A):c.194G>T (p.Ser65Ile)

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

G/G No copy of the version ClinVar lists as likely disease-causing for Maturity-onset diabetes of the young. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV002690995, no assertion criteria provided)
G/T One copy of the version ClinVar lists as likely disease-causing for Maturity-onset diabetes of the young. 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV002690995, no assertion criteria provided)
T/T Two copies of the version ClinVar lists as likely disease-causing for Maturity-onset diabetes of the young. 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV002690995, no assertion criteria provided)

Source: ClinVar VCV002690995, no assertion criteria provided

Quoting this page

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Maturity-onset diabetes of the young (rs2515644908). MyGeneLog™. https://www.mygenelog.com/variants/rs2515644908

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