ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.547+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1161477501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002010977 SCV002291143 likely pathogenic not provided 2021-05-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant is associated with skipping of exon and retention of intron, which introduces a premature termination codon (PMID:15921385). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant has been observed in individual(s) withcongenital methemoglobinemia (PMID: 15921385). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 6 of the CYB5R3 gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV003485758 SCV004238134 likely pathogenic Deficiency of cytochrome-b5 reductase 2023-02-27 criteria provided, single submitter clinical testing

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