ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.620G>A (p.Arg207His) (rs571938170)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726476 SCV000240975 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing p.Arg207His (CGC>CAC): c.620 G>A in exon 3 of the EPM2A gene (NM_005670.3). The Arg207His missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one positively charged amino acid for another. However, it alters a position that is conserved across species, and in silico analysis predicts this variant may be damaging to the protein structure/function. Based on the currently available information, it is unclear whether Arg207His is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726476 SCV000344958 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV001088121 SCV001010679 likely benign Progressive myoclonic epilepsy 2019-12-31 criteria provided, single submitter clinical testing

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