ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Jun 22, 2018
- Most recent Submission:
- Jun 22, 2018
- Last evaluated:
- Aug 15, 2000
- Accession:
- VCV000000561.1
- Variation ID:
- 561
- Description:
- Haplotype
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NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
- Other names
- FECH, ASN408LYS, PRO409SER, AND CYS411GLY
- Functional consequence
- -
- Links
- ClinGen: CA026511
- OMIM: 612386.0014
This haplotype includes the following variants
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Aug 15, 2000 | RCV000000591.4 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Aug 15, 2000)
|
no assertion criteria provided
Method: literature only
|
PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000020740.3
First in ClinVar: Apr 04, 2013 Last updated: Jun 22, 2018 |
Comment on evidence:
In a patient with erythropoietic protoporphyria (EPP1; 177000), Schneider-Yin et al. (2000) found heterozygosity for a triple mutation in the FECH gene: 1224T-A, 1225C-T, and … (more)
In a patient with erythropoietic protoporphyria (EPP1; 177000), Schneider-Yin et al. (2000) found heterozygosity for a triple mutation in the FECH gene: 1224T-A, 1225C-T, and 1231T-G, leading to asn408-to-lys/pro409-to-ser/cys411-to-gly amino acid changes. All 3 mutations were absent from the FECH gene of the patient's mother, suggesting that all 3 were aligned on the FECH allele derived from the father. (less)
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review. | Long ZB | Journal of Zhejiang University. Science. B | 2016 | PMID: 27704751 |
| Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. | Balwani M | Molecular medicine (Cambridge, Mass.) | 2013 | PMID: 23364466 |
| Molecular epidemiology of erythropoietic protoporphyria in the U.K. | Whatley SD | The British journal of dermatology | 2010 | PMID: 20105171 |
| Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. | Gouya L | American journal of human genetics | 2006 | PMID: 16385445 |
| Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. | Schneider-Yin X | Blood | 2000 | PMID: 10942404 |
Record last updated Feb 07, 2023