Alamut is a decision-support software application developed by Interactive Biosoftware for mutation diagnostics in medical molecular genetics. It is a client-server application that integrates genetic information from different sources to describe variants using HGVS nomenclature and to help interpret their pathogenic status. We evaluated Alamut in four areas: its user interface and usability; the suitability of its data sources; its applicability to diagnostic testing; and its validity and accuracy. Laboratories found the software intuitive and easy to use, and well adapted to diagnostic testing. Over 400 variants from 14 genes were tested. Alamut was found to provide accurate and high quality nomenclature, often better than manually generated nomenclature. The only problems found were in the protein level
nomenclature for a few complex variants, and with some cases of the interpretation of data from external data sources. Genomic and HGVS coordinates of genes were found to be in complete agreement with other data sources. We conclude that, with the usual professional care and critical assessment of the data it provides, Alamut is potentially a great asset to the diagnostic laboratory.

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