ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1851G>T (p.Trp617Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388720 SCV004100457 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency criteria provided, single submitter clinical testing The missense variant p.W620C in POR (NM_000941.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.W620C variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.W620C missense variant is predicted to be damaging by both SIFT and PolyPhen2. The tryptophan residue at codon 620 of POR is conserved in all mammalian species. The nucleotide c.1860 in POR is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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