ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2177T>C (p.Leu726Pro)

dbSNP: rs1591611012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793630 SCV000932992 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2018-11-21 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with GRIN2B-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 726 of the GRIN2B protein (p.Leu726Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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