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

gnomAD frequency: 0.00084  dbSNP: rs45492397

Total submissions: 11

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084136	SCV000285260	benign	Tuberous sclerosis 2	2024-01-30	criteria provided, single submitter	clinical testing
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: 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	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
All of Us Research Program, National Institutes of Health	RCV000042436	SCV004819328	benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042436	SCV000066227	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
PreventionGenetics, part of Exact Sciences	RCV004528235	SCV000305162	likely benign	TSC2-related disorder	2021-11-22	no assertion criteria provided	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).