Submissions for variant NM_000548.5(TSC2):c.5319T>C (p.His1773=)

gnomAD frequency: 0.00006  dbSNP: rs536518032

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228307	SCV000285457	benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000248030	SCV000305251	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001722218	SCV000520582	benign	not provided	2020-03-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001023913	SCV001185856	likely benign	Hereditary cancer-predisposing syndrome	2019-09-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab	RCV000228307	SCV002039949	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000228307	SCV004360946	uncertain significance	Tuberous sclerosis 2	2022-11-06	criteria provided, single submitter	clinical testing	This variant is located in the TSC2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC2-related disorders in the literature. This variant has been identified in 18/281426 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.