ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn)

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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 RCV003338103 SCV004047025 uncertain significance Deficiency of cytochrome-b5 reductase criteria provided, single submitter clinical testing The missense variant c.801G>T (p.Lys267Asn) in CYB5R3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys267Asn variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Lys at position 267 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by PolyPhen2 and the residue is conserved across species. The amino acid change p.Lys267Asn in CYB5R3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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