ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2563G>A (p.Asp855Asn)

gnomAD frequency: 0.00001  dbSNP: rs796052564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187677 SCV000241274 uncertain significance not provided 2021-03-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000639592 SCV000761169 likely benign Landau-Kleffner syndrome 2024-10-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001563618 SCV001786594 uncertain significance Complex neurodevelopmental disorder 2020-12-09 criteria provided, single submitter clinical testing The GRIN2A c.2563G>A (p.Asp855Asn) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database despite being in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Asp855Asn variant is classified as a variant of uncertain significance for GRIN2A-complex neurodevelopmental disorder.

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