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Sensitive

Coronary sclerosis, medial, of infancy

ENPP1 · rs756541266

Strength of the evidence

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 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 for Coronary sclerosis, medial, of infancy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-07-17. ClinVar record 692042 NM_006208.3(ENPP1):c.1068G>A (p.Trp356Ter)

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 Two copies of the version ClinVar lists as disease-causing for Coronary sclerosis, medial, of infancy. 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. So far only one lab has made this call, so it may change. (ClinVar VCV000692042, criteria provided, single submitter)
A/G One copy of the version ClinVar lists as disease-causing for Coronary sclerosis, medial, of infancy. 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. So far only one lab has made this call, so it may change. (ClinVar VCV000692042, criteria provided, single submitter)
G/G No copy of the version ClinVar lists as disease-causing for Coronary sclerosis, medial, of infancy. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000692042, criteria provided, single submitter)

Source: ClinVar VCV000692042, criteria provided, single submitter

Quoting this page

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Coronary sclerosis, medial, of infancy (rs756541266). MyGeneLog™. https://www.mygenelog.com/variants/rs756541266

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