ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2450A>G (p.Asn817Ser) (rs1555103159)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680004 SCV000807442 uncertain significance Epileptic encephalopathy, early infantile, 27 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 4-year-old male with severe delays, prfound hypotonia, history of spasticity, infantile spasms, hand flapping, dysmorphisms, failure to thrive, global brain volume loss
GeneDx RCV000658454 SCV000780226 likely pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the GRIN2B gene. The N817S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N817S variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Missense variants in nearby residues have been reported in the Human Gene Mutation Database in individuals with GRIN2B-related disorders (Stenson et al., 2014). However, the N817S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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