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Autosomal recessive inherited pseudoxanthoma elasticum

ABCC6 · rs114303883

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 Uncertain significance for Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, ABCC6-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 7 submitters), last evaluated 2026-09-21. ClinVar record 433460 NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys)

Classification Pathogenic for Autosomal recessive inherited pseudoxanthoma elasticum; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2022-12-09. ClinVar record 433454 NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter)

Classification Uncertain significance; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-09-27. ClinVar record 2107708 NM_001171.6(ABCC6):c.2125G>C (p.Glu709Gln)

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 Autosomal recessive inherited pseudoxanthoma elasticum. 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 VCV000433454, criteria provided, single submitter)

A/C One copy of the version ClinVar lists as disease-causing for Autosomal recessive inherited pseudoxanthoma elasticum. 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 VCV000433454, criteria provided, single submitter)

C/C No copy of the version ClinVar lists as disease-causing for Autosomal recessive inherited pseudoxanthoma elasticum. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000433454, criteria provided, single submitter)

Source: ClinVar VCV000433454, criteria provided, single submitter

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

Autosomal recessive inherited pseudoxanthoma elasticum (rs114303883). MyGeneLog™. https://www.mygenelog.com/variants/rs114303883

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