Submissions for variant NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)

gnomAD frequency: 0.00002  dbSNP: rs886051794

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000356779	SCV000395648	uncertain significance	Tuberous sclerosis syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001697713	SCV000535087	likely benign	not provided	2021-04-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000462476	SCV000556563	likely benign	Tuberous sclerosis 2	2025-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001022072	SCV001183764	likely benign	Hereditary cancer-predisposing syndrome	2017-12-27	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	RCV000462476	SCV002039836	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000356779	SCV004824245	likely benign	Tuberous sclerosis syndrome	2023-11-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544573	SCV004784223	likely benign	TSC2-related disorder	2023-04-17	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).