Submissions for variant NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) (rs1057524089)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000438586	SCV000534533	pathogenic	not provided	2016-12-14	criteria provided, single submitter	clinical testing	The Q163X nonsense variant in the GRIN2A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q163X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with a diagnosis of GRIN2A-related disorder
Invitae	RCV000546009	SCV000638251	pathogenic	Epilepsy, focal, with speech disorder and with or without mental retardation	2018-09-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln163*) in the GRIN2A gene. It is expected to result in an absent or disrupted protein product. 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 disease. ClinVar contains an entry for this variant (Variation ID: 391457). Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). For these reasons, this variant has been classified as Pathogenic.

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