Sensitive

Interstitial lung disease 2

RTEL1 · rs748223349

Where this position leads

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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, Dyskeratosis congenita, autosomal recessive 5; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2025-07-29. ClinVar record 1365906 NM_001283009.2(RTEL1):c.1546G>A (p.Val516Ile)

Classification Pathogenic for Interstitial lung disease 2; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2015-05-19. ClinVar record 217519 NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu)

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 ClinVar lists as disease-causing for Interstitial lung disease 2. 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 VCV000217519, criteria provided, single submitter)

C/G One copy of the version ClinVar lists as disease-causing for Interstitial lung disease 2. 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 VCV000217519, criteria provided, single submitter)

G/G No copy of the version ClinVar lists as disease-causing for Interstitial lung disease 2. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000217519, criteria provided, single submitter)

Source: ClinVar VCV000217519, criteria provided, single submitter

Questions about rs748223349

What is rs748223349?

rs748223349 is a single position in the genome, in or near the RTEL1 gene. Published research associates it with interstitial lung disease 2. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs748223349 linked to?

On MyGeneLog this position is linked to Interstitial Lung Disease. The research behind each link, and its sources, are set out on that condition page.

Does having rs748223349 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 rs748223349 come from?

ClinVar VCV000217519, criteria provided, single submitter. 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

Interstitial lung disease 2 (rs748223349). MyGeneLog™. https://www.mygenelog.com/variants/rs748223349

← See all variants