ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg)

gnomAD frequency: 0.00032  dbSNP: rs200751676
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195263 SCV000246822 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345688 SCV002645811 uncertain significance Inborn genetic diseases 2014-08-18 criteria provided, single submitter clinical testing The p.G1701R variant (also known as c.5101G>A), located in coding exon 41 of the BRWD3 gene, results from a G to A substitution at nucleotide position 5101. The glycine at codon 1701 is replaced by arginine, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs200751676. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele was absent out of 2443 total male alleles studied. This amino acid position is not conserved on species alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV001701635 SCV003284119 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000599839 SCV000734794 likely benign Intellectual disability, X-linked 93 no assertion criteria provided clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251698 SCV001427439 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701635 SCV001927808 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701635 SCV001975038 likely benign not provided no assertion criteria provided clinical testing

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