ClinVar Miner

Submissions for variant NM_001083619.3(GRIA2):c.1150C>T (p.Arg384Trp)

gnomAD frequency: 0.00001  dbSNP: rs766785821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002541038 SCV003613872 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The c.1150C>T (p.R384W) alteration is located in exon 8 (coding exon 8) of the GRIA2 gene. This alteration results from a C to T substitution at nucleotide position 1150, causing the arginine (R) at amino acid position 384 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692722 SCV005190323 uncertain significance not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001771810 SCV002011747 uncertain significance Neurodevelopmental disorder with language impairment and behavioral abnormalities 2021-06-17 no assertion criteria provided clinical testing

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