{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9"],"submitter":["Deng H"],"pubmed_abstract":["<h4>Background</h4>The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed <i>COL4A3/COL4A4</i> missense and synonymous variants detected by next-generation sequencing to provide evidence for diagnosis and genetic counselling.<h4>Methods</h4>Patients' clinical findings and genetic data were analysed retrospectively. An <i>in vitro</i> minigene assay was conducted to assess the effect of presumed <i>COL4A3/COL4A4</i> missense and synonymous variants on RNA splicing.<h4>Results</h4>Five unclassified <i>COL4A3/COL4A4</i> variants, which were detected in five of 343 patients with hereditary kidney diseases, were analysed. All of them w"],"journal":["Frontiers in medicine"],"pagination":["838983"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8977549"],"repository":["biostudies-literature"],"pubmed_title":["Presumed <i>COL4A3/COL4A4</i> Missense/Synonymous Variants Induce Aberrant Splicing."],"pmcid":["PMC8977549"],"pubmed_authors":["Zhang Y","Wang F","Ding J","Deng H"],"additional_accession":[]},"is_claimable":false,"name":"Presumed <i>COL4A3/COL4A4</i> Missense/Synonymous Variants Induce Aberrant Splicing.","description":"<h4>Background</h4>The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed <i>COL4A3/COL4A4</i> missense and synonymous variants detected by next-generation sequencing to provide evidence for diagnosis and genetic counselling.<h4>Methods</h4>Patients' clinical findings and genetic data were analysed retrospectively. An <i>in vitro</i> minigene assay was conducted to assess the effect of presumed <i>COL4A3/COL4A4</i> missense and synonymous variants on RNA splicing.<h4>Results</h4>Five unclassified <i>COL4A3/COL4A4</i> variants, which were detected in five of 343 patients with hereditary kidney diseases, were analysed. All of them w","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-19T12:07:34.927Z","creation":"2025-04-19T12:07:34.927Z"},"accession":"S-EPMC8977549","cross_references":{"pubmed":["35386907"],"doi":["10.3389/fmed.2022.838983"]}}