ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)

dbSNP: rs374338349
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173389 SCV000224496 benign not specified 2014-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000173389 SCV000240970 benign not specified 2015-03-16 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 RCV000232414 SCV000288970 benign Progressive myoclonic epilepsy 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000173389 SCV000311208 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711612 SCV000841994 benign not provided 2017-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316958 SCV000851194 benign Inborn genetic diseases 2017-11-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV000192023 SCV002798344 likely benign Lafora disease 2021-08-10 criteria provided, single submitter clinical testing
GeneReviews RCV000192023 SCV000196902 not provided Lafora disease no assertion provided literature only

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