ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs)

dbSNP: rs1596587476
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822999 SCV000963833 pathogenic Landau-Kleffner syndrome 2018-10-08 criteria provided, single submitter clinical testing Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with GRIN2A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro23Argfs*118) in the GRIN2A gene. It is expected to result in an absent or disrupted protein product.

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