ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) (rs1060503228)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473955 SCV000552374 pathogenic Epilepsy, focal, with speech disorder and with or without mental retardation 2016-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 578 (p.Tyr578*) of the GRIN2A gene. It is expected to result in an absent or disrupted protein product. While this particular variant 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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