Submissions for variant NM_000548.5(TSC2):c.1860G>A (p.Leu620=)

gnomAD frequency: 0.00084  dbSNP: rs45492397

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125656	SCV000169118	benign	not specified	2014-03-17	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	RCV001084136	SCV000285260	benign	Tuberous sclerosis 2	2024-01-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891518	SCV000305162	likely benign	TSC2-related condition	2021-11-22	criteria provided, single submitter	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).
Eurofins Ntd Llc (ga)	RCV000726515	SCV000345179	uncertain significance	not provided	2016-09-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570009	SCV000675543	likely benign	Hereditary cancer-predisposing syndrome	2016-08-22	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	RCV001084136	SCV002039584	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000570009	SCV002531011	likely benign	Hereditary cancer-predisposing syndrome	2021-05-18	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000726515	SCV004133820	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	TSC2: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000726515	SCV004563602	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042436	SCV000066227	not provided	Tuberous sclerosis syndrome		no assertion provided	curation