Submissions for variant NM_000548.5(TSC2):c.720C>T (p.Ile240=)

gnomAD frequency: 0.00001  dbSNP: rs45517123

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000477220	SCV000556599	benign	Tuberous sclerosis 2	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000609500	SCV000730270	likely benign	not specified	2018-02-12	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.
Ambry Genetics	RCV001026159	SCV001188483	likely benign	Hereditary cancer-predisposing syndrome	2016-10-06	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	RCV000477220	SCV002041257	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001815176	SCV002063461	likely benign	not provided	2021-10-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001026159	SCV002534098	likely benign	Hereditary cancer-predisposing syndrome	2021-03-25	criteria provided, single submitter	curation
Tuberous sclerosis database (TSC2)	RCV000043176	SCV000066976	not provided	Tuberous sclerosis syndrome		no assertion provided	curation