ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1007+5923G>C

dbSNP: rs2141611422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837254 SCV002097766 uncertain significance Landau-Kleffner syndrome 2021-02-05 criteria provided, single submitter clinical testing The de novo c.1007+5923G>C variant identified in the GRIN2A gene substitutes a moderately conserved Guanine for Cytosine within intron 3/12. This variant is absent from gnomAD(v3.1) suggesting it is not a common benign variant in the populations represented in that database. In silico splicing predictors do not predict this variant to significantly alter splicing (SpliceAI=0.00; TraP score-percentile=0.014). This variant has not been previously reported in ClinVar and to our current knowledge has not been reported in affected individuals in the literature. While it is identified de novo and is absent in population databases, the lack of additional compelling evidence for its pathogenicity leads to the classification as a Variant of Uncertain Significance.

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