ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs)

dbSNP: rs1555491538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624673 SCV000742915 pathogenic Inborn genetic diseases 2017-10-06 criteria provided, single submitter clinical testing
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420305 SCV001622725 pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PVS1_very strong;PM2_supporting;PP5_supporting
Invitae RCV001855316 SCV002232063 pathogenic Landau-Kleffner syndrome 2021-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala33Argfs*105) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with GRIN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 522057). For these reasons, this variant has been classified as Pathogenic.

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