ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln)

gnomAD frequency: 0.00001  dbSNP: rs761133847
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316165 SCV000847786 uncertain significance Inborn genetic diseases 2016-09-06 criteria provided, single submitter clinical testing The p.R1337Q variant (also known as c.4010G>A), located in coding exon 16 of the ARID1B gene, results from a G to A substitution at nucleotide position 4010. The arginine at codon 1337 is replaced by glutamine, an amino acid with highly similar properties. This variant 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 variant was not observed in 6499 samples (12998 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Revvity Omics, Revvity RCV003141720 SCV003826928 uncertain significance Coffin-Siris syndrome 1 2021-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535780 SCV004117053 uncertain significance ARID1B-related disorder 2023-09-12 criteria provided, single submitter clinical testing The ARID1B c.4010G>A variant is predicted to result in the amino acid substitution p.Arg1337Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0061% of alleles in individuals of East Asian descent in gnomAD, including two individuals from the non-neuro sub-population (http://gnomad.broadinstitute.org/variant/6-157517446-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV005092072 SCV005828451 benign not provided 2024-05-29 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.