ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1533G>A (p.Ser511=)

gnomAD frequency: 0.00007  dbSNP: rs112848130
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704339 SCV000528396 likely benign not provided 2020-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318465 SCV000851436 likely benign Inborn genetic diseases 2016-12-30 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000865984 SCV001007018 likely benign Landau-Kleffner syndrome 2023-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704339 SCV004701906 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing GRIN2A: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003922795 SCV004741096 likely benign GRIN2A-related condition 2019-10-28 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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