We have a patient with clinical picture compatible with FKRP-related LGMD2i (aka LGMDr9). Has one known pathogenic mutation and also IVS1+4a>g c.-253+4a. Would like to assess this to better inform clinical decisions about needing a confirmatory biopsy, and possibility address most likely severity of progression.
Petra Disterer
http://www.hgvs.org/central-mutation-snp-databases not sure which is best, you might have to look through several.
or check out
https://www.researchgate.net/post/Which_is_the_simplest_way_to_decide_whether_a_mutation_is_pathogenesis_or_harmless
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Petra Disterer
Apparently there's a new highly accurate tool here: https://pypi.org/project/spliceai/ based on this paper: Article Predicting Splicing from Primary Sequence with Deep Learning
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