ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1418T>C (p.Phe473Ser)

dbSNP: rs2042667786
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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 RCV001234040 SCV001406665 uncertain significance Landau-Kleffner syndrome 2019-08-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 473 of the GRIN2A protein (p.Phe473Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. 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. 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 disruptive, 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.

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