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The meeting refined the ACMG criteria for variant assessment for the Alport genes (<jats:italic>COL4A3\u20135)<\/jats:italic>. It identified \u2018mutational hotspots\u2019 (PM1) in the collagen IV \u03b15, \u03b13 and \u03b14 chains including position 1 Glycine residues in the Gly-X-Y repeats in the intermediate collagenous domains; and Cysteine residues in the carboxy non-collagenous domain (PP3). It considered that \u2018well-established\u2019 functional assays (PS3, BS3) were still mainly research tools but sequencing and minigene assays were commonly used to confirm splicing variants. It was not possible to define the Minor Allele Frequency (MAF) threshold above which variants were considered Benign (BA1, BS1), because of the different modes of inheritances of Alport syndrome, and the occurrence of hypomorphic variants (often Glycine adjacent to a non-collagenous interruption) and local founder effects. Heterozygous<jats:italic>COL4A3<\/jats:italic>and<jats:italic>COL4A4<\/jats:italic>variants were common \u2018incidental\u2019 findings also present in normal reference databases. The recognition and interpretation of hypomorphic variants in the<jats:italic>COL4A3\u2013COL4A5<\/jats:italic>genes remains a challenge.<\/jats:p>","DOI":"10.1038\/s41431-021-00858-1","type":"journal-article","created":{"date-parts":[[2021,4,15]],"date-time":"2021-04-15T02:04:24Z","timestamp":1618452264000},"page":"1186-1197","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":124,"title":["Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG 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