ClinVar Miner

Submissions for variant NM_005918.4(MDH2):c.899A>G (p.Glu300Gly)

dbSNP: rs2116708081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420520 SCV001622821 uncertain significance Developmental and epileptic encephalopathy, 51 2020-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377664 SCV002683830 uncertain significance Inborn genetic diseases 2021-12-01 criteria provided, single submitter clinical testing The p.E300G variant (also known as c.899A>G), located in coding exon 9 of the MDH2 gene, results from an A to G substitution at nucleotide position 899. The glutamic acid at codon 300 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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