ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.876A>G (p.Arg292=)

dbSNP: rs876661173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217794 SCV000279710 uncertain significance not provided 2015-12-18 criteria provided, single submitter clinical testing The c.876 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.876 A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.876 A>G creates a cryptic donor site in exon 3 which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765448 SCV004579226 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-05-15 criteria provided, single submitter clinical testing

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