ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1007+1G>A (rs397518465)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656049 SCV000588325 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726036 SCV000341369 pathogenic not provided 2016-06-03 criteria provided, single submitter clinical testing
GeneReviews RCV000074386 SCV000320740 pathogenic Epilepsy, focal, with speech disorder and with or without mental retardation 2016-03-16 no assertion criteria provided literature only
Invitae RCV000074386 SCV000761171 pathogenic Epilepsy, focal, with speech disorder and with or without mental retardation 2018-11-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the GRIN2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Landau-Kleffner syndrome, atypical benign partial epilepsy, benign epilepsy with centrotemporal spikes, and focal epilepsy (PMID: 23933819, 28102150), and segregates with epilepsy-aphasia syndromes in families (PMID: 23933818). This variant is also known as 1005-1C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 88727). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000074386 SCV000105996 pathogenic Epilepsy, focal, with speech disorder and with or without mental retardation 2013-09-01 no assertion criteria provided literature only

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