ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3064C>T (p.Arg1022Cys)

gnomAD frequency: 0.00001  dbSNP: rs560057284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325946 SCV000400153 benign Landau-Kleffner syndrome 2018-01-12 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 RCV000523552 SCV000619035 likely benign not provided 2020-03-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000325946 SCV002383369 likely benign Landau-Kleffner syndrome 2023-09-20 criteria provided, single submitter clinical testing

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