ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.1685A>G (p.Glu562Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004951946 SCV005448894 uncertain significance Inborn genetic diseases 2024-11-30 criteria provided, single submitter clinical testing The p.E562G variant (also known as c.1685A>G), located in coding exon 8 of the MECOM gene, results from an A to G substitution at nucleotide position 1685. The glutamic acid at codon 562 is replaced by glycine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005107484 SCV005778919 uncertain significance not provided 2024-03-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 374 of the MECOM protein (p.Glu374Gly). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MECOM-related conditions. 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. 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.

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