ClinVar Miner

Submissions for variant NC_000016.9:g.(?_9984823)_(10032428_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003105354 SCV003794383 uncertain significance Landau-Kleffner syndrome 2023-05-04 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. This variant disrupts a region of the GRIN2A protein in which other variant(s) (p.Arg370Gln) have been observed in individuals with GRIN2A-related conditions (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. A similar copy number variant has been observed in individual(s) with clinical features of GRIN2A-related conditions (PMID: 30544257). This variant is a gross deletion of the genomic region encompassing exon(s) 4-5 of the GRIN2A gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.