ClinVar Miner

Submissions for variant NM_007289.4(MME):c.2243G>A (p.Arg748Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002948778 SCV003277276 uncertain significance not provided 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 748 of the MME protein (p.Arg748Gln). This variant is present in population databases (rs200966070, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MME-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Ambry Genetics RCV003170702 SCV003894667 uncertain significance Inborn genetic diseases 2023-02-07 criteria provided, single submitter clinical testing The c.2243G>A (p.R748Q) alteration is located in exon 23 (coding exon 22) of the MME gene. This alteration results from a G to A substitution at nucleotide position 2243, causing the arginine (R) at amino acid position 748 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002948778 SCV005378670 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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