ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) (rs876661151)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502504 SCV000595082 likely pathogenic Epileptic encephalopathy, early infantile, 27 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV000696914 SCV000825495 uncertain significance Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2018-02-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 668 of the GRIN2B protein (p.Asp668Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GRIN2B-related disease. ClinVar contains an entry for this variant (Variation ID: 373930). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415209 SCV000492565 pathogenic Astigmatism; Motor delay; Delayed speech and language development; Joint hypermobility; Long fingers 2016-03-09 no assertion criteria provided clinical testing

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