Submissions for variant NM_000548.5(TSC2):c.4434C>T (p.Asp1478=)

gnomAD frequency: 0.00004  dbSNP: rs758374702

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000457957	SCV000556565	benign	Tuberous sclerosis 2	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001022472	SCV001184215	likely benign	Hereditary cancer-predisposing syndrome	2019-02-09	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.
GeneDx	RCV001712427	SCV001939952	likely benign	not provided	2020-02-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000457957	SCV002039466	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496805	SCV002807044	benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-05-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001712427	SCV004129862	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003915285	SCV004730192	likely benign	TSC2-related condition	2023-03-08	criteria provided, single submitter	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).