ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn)

gnomAD frequency: 0.00006  dbSNP: rs540445580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502160 SCV000595065 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000795333 SCV000934788 likely benign Landau-Kleffner syndrome 2024-04-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000502160 SCV004241846 uncertain significance not specified 2023-12-05 criteria provided, single submitter clinical testing Variant summary: GRIN2A c.3103G>A (p.Asp1035Asn) results in a conservative amino acid change located in the Glutamate [NMDA] receptor, epsilon subunit, C-terminal domain (IPR018884) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.9e-05 in 282654 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in GRIN2A causing Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3103G>A in individuals affected with Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014; both submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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