ClinVar Miner

Submissions for variant NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) (rs12735723)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000961007 SCV001108036 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986448 SCV001135454 uncertain significance Variegate porphyria 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986448 SCV001255186 likely benign Variegate porphyria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000009241 SCV000029459 pathogenic Variegate porphyria, homozygous 2001-04-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000986448 SCV001142311 benign Variegate porphyria 2020-01-06 no assertion criteria provided curation NM_000309.3:c.767C>G in the PPOX gene has an allele frequency of 0.012 in European (Finnish) subpopulation in the gnomAD database, including eight homozygous occurrences. Functional studies indicated that this variant resulted in less than half of the normal PPOX activity in the prokaryotic expression system but the activity was almost normal in eukaryotic expression (PMID: 11286631). In addition, Whatley et al. reported this variant as a polymorphism (PMID: 10486317). Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1; BS2; BS3.

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