ClinVar Miner

Submissions for variant NM_052865.4(MGME1):c.659G>A (p.Arg220Gln)

gnomAD frequency: 0.00059  dbSNP: rs201465869
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874379 SCV002136050 uncertain significance not provided 2022-09-15 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 220 of the MGME1 protein (p.Arg220Gln). This variant is present in population databases (rs201465869, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MGME1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1368309). 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 MGME1 protein function. 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 RCV002550419 SCV003539758 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.659G>A (p.R220Q) alteration is located in exon 3 (coding exon 2) of the MGME1 gene. This alteration results from a G to A substitution at nucleotide position 659, causing the arginine (R) at amino acid position 220 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003147690 SCV003836356 uncertain significance Mitochondrial DNA depletion syndrome 11 2022-03-23 criteria provided, single submitter clinical testing
GeneDx RCV001874379 SCV005332515 uncertain significance not provided 2024-03-01 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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