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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