Submissions for variant NM_000548.5(TSC2):c.2451C>T (p.Asp817=)

gnomAD frequency: 0.00012  dbSNP: rs201442542

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125662	SCV000169124	benign	not specified	2014-04-17	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.
Invitae	RCV000231431	SCV000285295	benign	Tuberous sclerosis 2	2024-01-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125662	SCV000305175	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000055195	SCV000395611	likely benign	Tuberous sclerosis syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000125662	SCV000615892	benign	not specified	2017-06-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568818	SCV000675523	likely benign	Hereditary cancer-predisposing syndrome	2015-08-20	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.
Genome-Nilou Lab	RCV000231431	SCV002041471	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568818	SCV002531070	benign	Hereditary cancer-predisposing syndrome	2021-06-16	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000231431	SCV004016118	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003390754	SCV004133834	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1
Tuberous sclerosis database (TSC2)	RCV000055195	SCV000083413	not provided	Tuberous sclerosis syndrome		no assertion provided	curation