rs45516293 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 11403047]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]
See also OMIM 191092.0011
[PMID 11403047] A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.
[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.