ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2209G>A (p.Glu737Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004823553 SCV005442735 pathogenic Intellectual disability, autosomal dominant 8 2025-01-06 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD, PS3, PM1, PM2, PP2, PP3. This variant was identified as de novo (maternity and paternity confirmed). Functional analysis performed by the Center of Functional Evaluation of Rare Variants (CVERV, Traynelis Lab, Emory) showed a "likely Gain-of-function" effect of the variant on the NMDAR, see https://grin-portal.broadinstitute.org/

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