ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.176G>A (p.Arg59His)

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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 RCV003041418 SCV003444490 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 59 of the CYB5R3 protein (p.Arg59His). This variant is present in population databases (rs111154229, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CYB5R3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2138455). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CYB5R3 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects CYB5R3 function (PMID: 19997042). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003041418 SCV004562939 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing

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