ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.24G>A (p.Val8=) (rs587780938)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716439 SCV000847280 likely benign Seizures 2016-07-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000675706 SCV000224500 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000186627 SCV000168346 benign not specified 2013-07-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000541849 SCV000636475 uncertain significance Progressive myoclonic epilepsy 2018-07-02 criteria provided, single submitter clinical testing This sequence change affects codon 8 of the EPM2A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EPM2A protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with EPM2A-related disease. ClinVar contains an entry for this variant (Variation ID: 137222). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675706 SCV000801419 likely benign not provided 2017-07-26 no assertion criteria provided clinical testing

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