Submissions for variant NM_001134407.3(GRIN2A):c.3535T>G (p.Ser1179Ala) (rs142670870)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000538485	SCV000638245	uncertain significance	Epilepsy, focal, with speech disorder and with or without mental retardation	2018-11-20	criteria provided, single submitter	clinical testing	This sequence change replaces serine with alanine at codon 1179 of the GRIN2A protein (p.Ser1179Ala). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and alanine. This variant is present in population databases (rs142670870, ExAC 0.06%). This variant has not been reported in the literature in individuals with GRIN2A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000658736	SCV000780524	uncertain significance	not provided	2018-02-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000658736	SCV000982844	likely benign	not provided	2018-03-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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