Submissions for variant NM_000548.5(TSC2):c.139-15T>G

gnomAD frequency: 0.00003  dbSNP: rs563094714

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000600709	SCV000731181	likely benign	not specified	2017-07-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002066812	SCV002388705	likely benign	Tuberous sclerosis 2	2024-12-02	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002621	SCV004833913	uncertain significance	Tuberous sclerosis syndrome	2024-07-10	criteria provided, single submitter	clinical testing	This variant causes a T to G nucleotide substitution at the -15 position of intron 2 of the TSC2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 6/282150 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Myriad Genetics, Inc.	RCV002066812	SCV005406340	likely benign	Tuberous sclerosis 2	2024-08-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.