ClinVar Miner

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

gnomAD frequency: 0.00077  dbSNP: rs587780938
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Eurofins Ntd Llc (ga) RCV000675706 SCV000224500 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081094 SCV000636475 likely benign Progressive myoclonic epilepsy 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312560 SCV000847280 likely benign Inborn genetic diseases 2016-07-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics RCV000186627 SCV001880306 benign not specified 2020-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675706 SCV002586148 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing EPM2A: BP4, BP7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224163 SCV003919922 likely benign Lafora disease 2022-07-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.1% (95/67772) (https://gnomad.broadinstitute.org/variant/6-145735475-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with multiple classifications of Likely Benign or Benign (Variation ID:137222). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000675706 SCV000801419 likely benign not provided 2017-07-26 no assertion criteria provided clinical testing

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