ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) (rs115466046)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710154 SCV000169917 benign not provided 2018-11-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533, 24794859, 21458570, 27884173, 27677466)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117319 SCV000202876 benign not specified 2014-03-18 criteria provided, single submitter clinical testing
Invitae RCV000234164 SCV000287322 benign EAST syndrome 2020-12-04 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000117319 SCV000297116 benign not specified 2015-08-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117319 SCV000308777 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710154 SCV000613860 likely benign not provided 2019-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715320 SCV000846149 benign History of neurodevelopmental disorder 2017-03-21 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000234164 SCV001254026 uncertain significance EAST syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Broad Institute Rare Disease Group, Broad Institute RCV001258301 SCV001435248 benign Autistic disorder of childhood onset; Seizures; Intellectual disability criteria provided, single submitter research The heterozygous p.Arg18Gln variant in KCNJ10 has been identified in 2 individuals with autism, seizures, and intellectual disability and segregated with disease in 2 relatives from 1 family (PMID: 21458570). This variant has also been identified in >1% of European (non-Finnish) chromosomes and 11 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the p.Arg18Gln variant may not impact protein function (PMID: 21458570). However, these types of assays may not accurately represent biological function. In summary, this variant meets criteria to be classified as benign for autism, seizures, and intellectual disability.
Genetic Services Laboratory, University of Chicago RCV000117319 SCV000151500 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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