Submissions for variant NM_000368.5(TSC1):c.1113C>T (p.His371=)

gnomAD frequency: 0.00003  dbSNP: rs771217333

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420172	SCV000514992	likely benign	not specified	2016-08-09	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	RCV000457209	SCV000562456	benign	Tuberous sclerosis 1	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000491936	SCV000579952	likely benign	Hereditary cancer-predisposing syndrome	2016-10-14	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	RCV000457209	SCV002040466	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000491936	SCV002530878	benign	Hereditary cancer-predisposing syndrome	2022-01-18	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003995988	SCV004840485	benign	Tuberous sclerosis syndrome	2023-09-17	criteria provided, single submitter	clinical testing