ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) (rs146321088)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727316 SCV000240983 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the EPM2A gene. The R241Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.The R241Q variant is observed in 125/23930 (0.5%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The R241Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000187396 SCV000613259 uncertain significance not specified 2016-08-18 criteria provided, single submitter clinical testing
Invitae RCV001084331 SCV000636478 likely benign Progressive myoclonic epilepsy 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727316 SCV000707488 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720116 SCV000850993 uncertain significance Seizures 2019-01-02 criteria provided, single submitter clinical testing Insufficient or conflicting evidence

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