ClinVar Miner

Submissions for variant NC_000016.9:g.(?_9984833)_(9984967_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389239 SCV001590513 pathogenic Landau-Kleffner syndrome 2020-06-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 5 of the GRIN2A gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933820, 23933819). For these reasons, this variant has been classified as Pathogenic.

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