ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro)

dbSNP: rs869312669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209917 SCV000265519 pathogenic Developmental and epileptic encephalopathy, 27 2014-06-04 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000794240 SCV000933634 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2019-02-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Intellectual disability, Speech delay, Hypotonia, and Macrocephaly (PMID: 28554332). ClinVar contains an entry for this variant (Variation ID: 224086). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces threonine with proline at codon 685 of the GRIN2B protein (p.Thr685Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline.

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