ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.801G>A (p.Met267Ile)

gnomAD frequency: 0.00108  dbSNP: rs118204037
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000000579 SCV000409664 likely benign Protoporphyria, erythropoietic, 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001794424 SCV002304169 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 267 of the FECH protein (p.Met267Ile). This variant is present in population databases (rs118204037, gnomAD 0.2%). This missense change has been observed in individual(s) with erythropoietic protoporphyria (PMID: 1755842, 16385445, 29941360). ClinVar contains an entry for this variant (Variation ID: 549). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FECH protein function. Experimental studies have shown that this missense change affects FECH function (PMID: 8276828, 15574461). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001794424 SCV002541464 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000000579 SCV004806528 uncertain significance Protoporphyria, erythropoietic, 1 2024-03-26 criteria provided, single submitter clinical testing
OMIM RCV000000579 SCV000020728 pathogenic Protoporphyria, erythropoietic, 1 1991-12-16 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001794424 SCV002034956 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001794424 SCV002038254 uncertain significance not provided no assertion criteria provided clinical testing

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