ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.384del (p.His128fs)

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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 RCV005136158 SCV005766216 pathogenic Landau-Kleffner syndrome 2024-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His128Glnfs*6) in the GRIN2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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