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Gorlin syndrome

PTCH1 · rs754650075

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 Hereditary cancer-predisposing syndrome, Gorlin syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2022-03-24. ClinVar record 1759363 NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)

Classification Conflicting classifications of pathogenicity for Gorlin syndrome, Hereditary cancer-predisposing syndrome; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2024-10-31. ClinVar record 948622 NM_000264.5(PTCH1):c.752A>G (p.Lys251Arg)

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

C/C Two copies of the version labs disagree about for Gorlin syndrome: 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 VCV000948622, criteria provided, conflicting classifications)
C/T One copy of the version labs disagree about for Gorlin syndrome: 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 VCV000948622, criteria provided, conflicting classifications)
T/T No copy of the version labs disagree about for Gorlin syndrome: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV000948622, criteria provided, conflicting classifications)

Source: ClinVar VCV000948622, criteria provided, conflicting classifications

Questions about rs754650075

What is rs754650075?

rs754650075 is a single position in the genome, in or near the PTCH1 gene. Published research associates it with gorlin syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs754650075 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 rs754650075 come from?

ClinVar VCV000948622, 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

Gorlin syndrome (rs754650075). MyGeneLog™. https://www.mygenelog.com/variants/rs754650075

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