ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)

dbSNP: rs2147383715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002077374 SCV002320783 likely pathogenic Syndromic X-linked intellectual disability 94 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331657 SCV002633613 pathogenic Inborn genetic diseases 2015-03-26 criteria provided, single submitter clinical testing The p.R394* pathogenic mutation (also known as c.1180C>T) located in coding exon 8 of the GRIA3 gene, results from a C to T substitution at nucleotide position 1180. This changes the amino acid from an arginine to a stop codon within coding exon 8. This alteration was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this alteration was not observed in 6502 samples with coverage at this position. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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