Variant
RET L790F
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
- p.L790F:TTG>TTC
- p.Leu790Phe
- p.L790F
- rs75030001
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 20 January 2022
Data current to ClinVar release 2026-10-19 · Dante Labs data release 2026.10.21-311f020eFacts last changed 21 October 2026
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library(jsonlite)
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page$variant$nameSummary
L790F is a missense variant in RET: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic or likely pathogenic for Familial Medullary Thyroid Carcinoma (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 1 more condition.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Familial Medullary Thyroid CarcinomaClinVar VCV000013935 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 20 January 2022 |
| Multiple Endocrine Neoplasia Type 2aClinVar VCV000013935 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 18 April 2023 |
Classifications as ClinVar records them in release 2026-10-19. ClinVar updates them as evidence is reviewed.
ACMG/AMP criteria
The ACMG/AMP criteria L790F meets, from its predicted effect in RET, gnomAD and ClinVar.
| Criterion | Strength | Points | Rests on |
|---|---|---|---|
| PS1Same amino acid change as a pathogenic variant | Strong | +4 | p.Leu790Phe at the same amino acid, ClinVar: Pathogenic (criteria provided, multiple submitters, no conflicts) |
| PP5A reputable source reports it as pathogenic | Supporting | Not counted | ClinVar: Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts) |
On these criteria alone: +4 points, uncertain significance.
Assessed automatically, without functional, computational or family evidence. Not a clinical classification.
Population frequency
How often L790F is seen among the people whose exomes and genomes gnomAD 4.1 brings together.
| Dataset | Allele frequency | Allele count | Homozygotes | Commonest in |
|---|---|---|---|---|
| gnomAD exomes | 0.00055%1 in 182,700 | 8 of 1,461,602 | 0 | African/African American: 0.003% |
| gnomAD genomes | Not seen | 0 of 0 | 0 |
Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result.
Molecular details
| Gene | RET |
|---|---|
| Transcript | NM_020975.6MANE Select |
| Coding DNA change (HGVS c.) | c.2370G>C |
| Protein change (HGVS p.) | p.Leu790Phep.L790F |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr10:43118458 G>C |
| Position (GRCh37) | chr10:43613906 G>C |
| dbSNP ID | rs75030001 (opens in a new tab) |
| ClinVar Variation ID | VCV000013935 (opens in a new tab) |
| ClinVar Allele ID | 28974 |
| ClinGen Allele Registry ID | CA008702 (opens in a new tab) |
| ClinVar name | NM_020975.6(RET):c.2370G>C (p.Leu790Phe) |
| Other names | p.L790F:TTG>TTC |
RET L790F in other databases
Reports that look at this variant (2)
These Genome Test condition reports include L790F among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Malignant Endocrine Neoplasm | Malignant Endocrine Neoplasm | |
| Multiple Endocrine Neoplasia | Autosomal dominant | |
| Thyroid Cancer | Thyroid Tumor | |
| Thyroid Cancer | ||
| Thyroid Gland Carcinoma | ||
| Thyroid Gland Adenocarcinoma | ||
| Multiple Endocrine Neoplasia Type 2 | Autosomal dominant | |
| Differentiated Thyroid Carcinoma | ||
| Thyroid Gland Follicular Carcinoma | ||
| Familial Medullary Thyroid Carcinoma | Autosomal dominant | |
| Multiple Endocrine Neoplasia Type 2a | Autosomal dominant | |
| Medullary Thyroid Gland Carcinoma | ||
| Thyroid Gland Disorder |
Other variants in RET
- c.1852T>APathogenic2 stars out of 4
- c.1858T>APathogenic/likely pathogenic2 stars out of 4
- c.1947G>APathogenic/likely pathogenic2 stars out of 4
- c.1998G>CPathogenic/likely pathogenic2 stars out of 4
- c.2370G>TPathogenic2 stars out of 4
- c.2410G>CPathogenic/likely pathogenic2 stars out of 4
- C609RPathogenic2 stars out of 4
- C609YPathogenic2 stars out of 4
- C611FPathogenic2 stars out of 4
- C611YPathogenic2 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-19), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-21-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-21).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.21-311f020e of 21 October 2026.
Cite this page
Dante Labs. (21 October 2026). RET L790F (c.2370G>C, rs75030001) (Version 2026.10.21-311f020e). Retrieved 21 October 2026, from https://dantelabs.com/genes/ret/variants/l790f
Dante Labs. RET L790F (c.2370G>C, rs75030001) [Internet]. Version 2026.10.21-311f020e. 21 October 2026 [cited 21 October 2026]. Available from: https://dantelabs.com/genes/ret/variants/l790f
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