ClinVar Miner

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

dbSNP: rs750819571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004794541 SCV005414935 likely pathogenic not provided 2024-05-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 24 amino acids are replaced with 90 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35064402)
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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