ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1249G>A (p.Val417Ile)

gnomAD frequency: 0.00001  dbSNP: rs749504561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470104 SCV000552382 uncertain significance Landau-Kleffner syndrome 2016-07-11 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 417 of the GRIN2A protein (p.Val417Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs749504561, ExAC 0.002%) but has not been reported in the literature in individuals with a GRIN2A-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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