ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.316G>A (p.Val106Met)

gnomAD frequency: 0.00006  dbSNP: rs121965009
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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 RCV001851507 SCV002185518 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects CYB5R3 function (PMID: 1400360). 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 not expected to disrupt CYB5R3 protein function. ClinVar contains an entry for this variant (Variation ID: 237). This variant is also known as Val105Met. This missense change has been observed in individual(s) with methemoglobinemia (PMID: 1400360, 3680497; Invitae). This variant is present in population databases (rs121965009, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 106 of the CYB5R3 protein (p.Val106Met).
OMIM RCV000000261 SCV000020405 pathogenic Methemoglobinemia, type I 2008-05-01 no assertion criteria provided literature only

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