Submissions for variant NM_000548.5(TSC2):c.4356G>A (p.Ser1452=)

gnomAD frequency: 0.00004  dbSNP: rs779122170

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086409	SCV000556642	benign	Tuberous sclerosis 2	2024-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318548	SCV000851236	likely benign	Hereditary cancer-predisposing syndrome	2016-09-07	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.
GeneDx	RCV000840884	SCV000982827	likely benign	not provided	2019-12-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24755471)
Genome-Nilou Lab	RCV001086409	SCV002039458	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506146	SCV002809262	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-04-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539992	SCV004773515	likely benign	TSC2-related disorder	2020-01-13	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).