ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu)

gnomAD frequency: 0.00004  dbSNP: rs367543120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000084740 SCV000860346 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034256 SCV001197591 likely benign Landau-Kleffner syndrome 2024-09-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003398693 SCV004122497 uncertain significance not specified 2023-10-04 criteria provided, single submitter clinical testing Variant summary: GRIN2A c.989C>T (p.Pro330Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 250216 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.989C>T has been reported in the literature in at-least one individual affected with Epilepsy (example,vonStulpnagel_2017). These report(s) do not provide unequivocal conclusions about association of the variant with Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 28109652). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. One submitter classified the variant as likely benign, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Psychiatry Genetics Yale University RCV000084740 SCV000116876 not provided not provided no assertion provided not provided

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