Submissions for variant NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)

gnomAD frequency: 0.00077  dbSNP: rs35282988

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125693	SCV000169157	benign	not specified	2013-10-31	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	RCV000163430	SCV000213976	likely benign	Hereditary cancer-predisposing syndrome	2015-01-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227843	SCV000285428	benign	Tuberous sclerosis 2	2025-02-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000125693	SCV000597593	uncertain significance	not specified	2015-08-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000227843	SCV000677552	benign	Tuberous sclerosis 2	2017-05-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000125693	SCV000703134	likely benign	not specified	2016-11-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042591	SCV001279946	likely benign	Tuberous sclerosis syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab	RCV000227843	SCV002040232	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579733	SCV002822241	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BS2
Color Diagnostics, LLC DBA Color Health	RCV000227843	SCV004360927	benign	Tuberous sclerosis 2	2022-09-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001579733	SCV004562420	likely benign	not provided	2023-08-17	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000042591	SCV004817504	benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042591	SCV000066385	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579733	SCV001808326	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000125693	SCV001921141	benign	not specified		no assertion criteria provided	clinical testing