ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.830dup (p.Pro278fs)

dbSNP: rs750819571
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hb Lab, Kinderklinik Ulm, University Hospital Ulm RCV001527675 SCV001738336 pathogenic Deficiency of cytochrome-b5 reductase 2021-06-23 no assertion criteria provided clinical testing The c.830dupC duplication in CYB5R3 has been found in 2 children of 2 unrelated german families. Both children presented increased levels of methemoglobin and reduced NADH-cytochrome b5 reductase activity in blood. Sequencing of DNA from blood revealed the c.830dupC duplication and a second missense mutation (compund heterozygotes) in both children. One child presented evident symptoms of a Type II Methemoglobinemia. The second one is still beeing evaluated (june 2021).

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