ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr)

dbSNP: rs1555483699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626032 SCV000746645 likely pathogenic Landau-Kleffner syndrome 2017-07-31 criteria provided, single submitter clinical testing
Invitae RCV000626032 SCV000761153 uncertain significance Landau-Kleffner syndrome 2019-07-15 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GRIN2A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 818 of the GRIN2A protein (p.Ala818Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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