ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.751G>A (p.Glu251Lys)

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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 RCV003740212 SCV004550676 uncertain significance not provided 2023-09-05 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 63 of the MECOM protein (p.Glu63Lys). This variant is present in population databases (rs760397699, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with MECOM-related conditions. 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.
Ambry Genetics RCV004950667 SCV005448912 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The p.E251K variant (also known as c.751G>A), located in coding exon 5 of the MECOM gene, results from a G to A substitution at nucleotide position 751. The glutamic acid at codon 251 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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