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Hereditary spastic paraplegia 56

CYP2U1 · rs762873672

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 Conflicting classifications of pathogenicity for Hereditary spastic paraplegia 56, Spastic paraplegia; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2023-11-20. ClinVar record 635070 NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)

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 labs disagree about for Hereditary spastic paraplegia 56: in ClinVar, some labs call it disease-causing and others do not. 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 VCV000635070, criteria provided, conflicting classifications)
A/G One copy of the version labs disagree about for Hereditary spastic paraplegia 56: in ClinVar, some labs call it disease-causing and others do not, so what one copy means is not settled. A genetic counsellor can look at the separate records. (ClinVar VCV000635070, criteria provided, conflicting classifications)
G/G No copy of the version labs disagree about for Hereditary spastic paraplegia 56: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV000635070, criteria provided, conflicting classifications)

Source: ClinVar VCV000635070, criteria provided, conflicting classifications

Questions about rs762873672

What is rs762873672?

rs762873672 is a single position in the genome, in or near the CYP2U1 gene. Published research associates it with hereditary spastic paraplegia 56. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs762873672 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs762873672 come from?

ClinVar VCV000635070, criteria provided, conflicting classifications. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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

Hereditary spastic paraplegia 56 (rs762873672). MyGeneLog™. https://www.mygenelog.com/variants/rs762873672

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