Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV001169976 | SCV001251739 | pathogenic | Variegate porphyria | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001339128 | SCV001532849 | uncertain significance | not provided | 2020-10-07 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this variant affects PPOX protein function (PMID: 21048046, 9811936). 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. This variant has been observed in individual(s) with variegate porphyria (PMID: 9540991, 9811936). ClinVar contains an entry for this variant (Variation ID: 915371). This variant is present in population databases (rs374936130, ExAC 0.006%). This sequence change replaces glycine with arginine at codon 358 of the PPOX protein (p.Gly358Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. |
Institute for Clinical Genetics, |
RCV001339128 | SCV002011129 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV003328475 | SCV004030231 | pathogenic | Variegate porphyria, childhood-onset | 2023-09-29 | no assertion criteria provided | literature only |