ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=)

gnomAD frequency: 0.00013  dbSNP: rs148085725
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392809 SCV000394710 benign Landau-Kleffner syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000436113 SCV000513191 benign not specified 2015-08-17 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 RCV000392809 SCV000562532 likely benign Landau-Kleffner syndrome 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317838 SCV000850048 likely benign Inborn genetic diseases 2016-06-23 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.
CeGaT Center for Human Genetics Tuebingen RCV001706497 SCV004141106 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing GRIN2A: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706497 SCV001931178 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706497 SCV001966282 likely benign not provided no assertion criteria provided clinical testing

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