Variants in Genes have been reported in the literature that is predicted to cause a specific disorder but are subsequently found to be benign polymorphisms....!!!
Do such reports solves a problem or creates a new problem?
Any Comments?
Thank you in advance.
First I would always look at both study design and evaluate association strength. Later, I would try to understand associated phenotypes in both cases. And lastly, there maybe a good chance to stamp understanding whether benign is due to heterogeneous/mild phenotype or variant affect.
Moreover, it is also good to check variant type, whether a LoF or missensse variant. Phenotype variation may be due to varied mutation affect.
It depends on nature of variant, for examples, it's synonymous variant, then it does not cause any thing all at al, since each genome has synonymous variants, which don't affect proteins or change proteins structure, however, if it's non-synonymous then maybe it change proteins structure. For this also we need to see that which type of non-synonymous variant i.e,missense or nonsense, which cause loss of function (LoF) ets...
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