Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000000579 | SCV000409664 | likely benign | Protoporphyria, erythropoietic, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
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, |
RCV001794424 | SCV002541464 | uncertain significance | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
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, |
RCV001794424 | SCV002034956 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001794424 | SCV002038254 | uncertain significance | not provided | no assertion criteria provided | clinical testing |