ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3690G>A (p.Thr1230=)

gnomAD frequency: 0.00002  dbSNP: rs200609066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312421 SCV000846839 likely benign Inborn genetic diseases 2016-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV001862016 SCV002226839 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-02-05 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 587940). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. This variant is present in population databases (rs200609066, gnomAD 0.01%). This sequence change affects codon 1230 of the GRIN2B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GRIN2B protein.

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