NF1 · rs1597716466
Where this position leads
Condition: Neurofibromatosis, Type 1
Strength of the evidence
ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars.
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/Likely pathogenic for Neurofibromatosis, type 1, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, NF1-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2026-08-20.
ClinVar record 822432 NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro)
Classification
Uncertain significance for Neurofibromatosis, type 1; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2025-04-13.
ClinVar record 1505368 NM_001042492.3(NF1):c.2984T>G (p.Leu995Arg)
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.
Source: ClinVar VCV000822432, criteria provided, multiple submitters, no conflicts
rs1597716466 is a single position in the genome, in or near the NF1 gene. Published research associates it with neurofibromatosis, type 1. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Neurofibromatosis, Type 1. The research behind each link, and its sources, are set out on that condition page.
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.
ClinVar VCV000822432, criteria provided, multiple submitters, no conflicts. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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
Neurofibromatosis, type 1 (rs1597716466). MyGeneLog™. https://www.mygenelog.com/variants/rs1597716466