Submissions for variant NM_000548.5(TSC2):c.1131C>T (p.Ser377=)

gnomAD frequency: 0.00004  dbSNP: rs201525586

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189882	SCV000243536	benign	not specified	2015-01-12	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	RCV000234051	SCV000285224	benign	Tuberous sclerosis 2	2025-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573673	SCV000675495	likely benign	Hereditary cancer-predisposing syndrome	2016-05-16	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.
Genome-Nilou Lab	RCV000234051	SCV002041304	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002478666	SCV002802959	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-05-17	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996861	SCV004821501	benign	Tuberous sclerosis syndrome	2023-02-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734840	SCV005354272	likely benign	TSC2-related disorder	2024-04-17	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).