ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter)

gnomAD frequency: 0.00001  dbSNP: rs763259379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV002262175 SCV002543786 pathogenic Deficiency of cytochrome-b5 reductase criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005095926 SCV005842190 pathogenic not provided 2025-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp236*) in the CYB5R3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acid(s) of the CYB5R3 protein. This variant is present in population databases (rs763259379, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with autosomal recessive methemoglobinemia (PMID: 21328435, 24266649). It has also been observed to segregate with disease in related individuals. This variant is also known as 705G>A Trp235Term. ClinVar contains an entry for this variant (Variation ID: 1694454). For these reasons, this variant has been classified as Pathogenic.

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