ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3619T>C (p.Tyr1207His)

gnomAD frequency: 0.00001  dbSNP: rs587780355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117187 SCV000151351 uncertain significance not provided 2013-08-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000117187 SCV000692834 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528213 SCV003533810 uncertain significance Inborn genetic diseases 2020-10-30 criteria provided, single submitter clinical testing The c.3619T>C (p.Y1207H) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a T to C substitution at nucleotide position 3619, causing the tyrosine (Y) at amino acid position 1207 to be replaced by a histidine (H). Based on data from the Genome Aggregation Database (gnomAD) database, the GRIN2A c.3619T>C alteration was observed in 0.0008% (2/251430) of total alleles studied, with a frequency of 0.002% (2/113714) in the European (non-Finnish) subpopulation. This amino acid position is well conserved in available vertebrate species. The p.Y1207H alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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