ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro)

dbSNP: rs2136470302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002568012 SCV003461754 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GRIN2B protein function. ClinVar contains an entry for this variant (Variation ID: 1164046). This missense change has been observed in individual(s) with clinical features of GRIN2B-related conditions (PMID: 30151416). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 643 of the GRIN2B protein (p.Leu643Pro).
GeneDx RCV003156347 SCV003845473 pathogenic not provided 2022-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30151416, 27839871)
Pediatric Genetics Clinic, Sheba Medical Center RCV001788528 SCV001712183 likely pathogenic Intellectual disability, autosomal dominant 6 2021-05-13 no assertion criteria provided clinical testing

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