Submissions for variant NM_000548.5(TSC2):c.1134G>A (p.Pro378=)

gnomAD frequency: 0.00001  dbSNP: rs754343186

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000310144	SCV000341350	uncertain significance	not provided	2016-05-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079274	SCV000644211	likely benign	Tuberous sclerosis 2	2025-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001079274	SCV002041133	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321961	SCV002609495	likely benign	Hereditary cancer-predisposing syndrome	2019-09-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health	RCV003995781	SCV004836080	likely benign	Tuberous sclerosis syndrome	2023-11-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543106	SCV004761400	likely benign	TSC2-related disorder	2019-03-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).