Submissions for variant NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)

gnomAD frequency: 0.00003  dbSNP: rs45517249

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001087230	SCV000285306	likely benign	Tuberous sclerosis 2	2023-12-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000612238	SCV000719402	likely benign	not specified	2017-05-15	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.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV001087230	SCV001430722	uncertain significance	Tuberous sclerosis 2	2020-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001087230	SCV002039668	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255269	SCV002531094	uncertain significance	Hereditary cancer-predisposing syndrome	2021-11-22	criteria provided, single submitter	curation
Ambry Genetics	RCV002255269	SCV002743153	likely benign	Hereditary cancer-predisposing syndrome	2021-06-11	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.
Tuberous sclerosis database (TSC2)	RCV000043344	SCV000067150	not provided	Tuberous sclerosis syndrome		no assertion provided	curation