ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.185T>C (p.Leu62Pro)

gnomAD frequency: 0.00001  dbSNP: rs769987851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001881711 SCV002148105 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-10-20 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. This variant is present in population databases (rs769987851, ExAC 0.01%). This sequence change replaces leucine with proline at codon 62 of the GRIN2B protein (p.Leu62Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.

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