ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)

gnomAD frequency: 0.00006  dbSNP: rs1057522803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431248 SCV000529557 likely benign not specified 2016-07-11 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.
Baylor Genetics RCV001332881 SCV001525323 uncertain significance Landau-Kleffner syndrome 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001332881 SCV001629074 likely benign Landau-Kleffner syndrome 2023-08-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897904 SCV004712310 likely benign GRIN2A-related condition 2023-09-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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