ClinVar Miner

Submissions for variant NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)

gnomAD frequency: 0.00001  dbSNP: rs374936130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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, University Hospital TU Dresden, University Hospital TU Dresden 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

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