Submissions for variant NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)

gnomAD frequency: 0.00231  dbSNP: rs1800729

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000034646	SCV000169115	benign	not provided	2019-02-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10205261, 17304050, 22703879, 27997549, 28003660, 25925381, 23718828, 23514105, 26094658, 19254590, 24728327, 29607586)
Ambry Genetics	RCV000129673	SCV000184472	benign	Hereditary cancer-predisposing syndrome	2015-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genetic Services Laboratory, University of Chicago	RCV000122209	SCV000249205	likely benign	not specified	2015-02-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204294	SCV000262167	benign	Tuberous sclerosis 2	2025-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000122209	SCV000305158	benign	not specified	2016-01-26	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000122209	SCV000331488	benign	not specified	2015-10-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000054859	SCV000395589	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000034646	SCV000610302	likely benign	not provided	2017-06-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000122209	SCV000677537	benign	not specified	2024-12-06	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000034646	SCV002011351	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000204294	SCV002041377	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000129673	SCV002530994	benign	Hereditary cancer-predisposing syndrome	2020-08-31	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000034646	SCV002563282	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TSC2: PM5, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000122209	SCV002774065	benign	not specified	2021-07-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000204294	SCV004360870	benign	Tuberous sclerosis 2	2022-09-20	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034646	SCV000043529	no known pathogenicity	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Benign.
Tuberous sclerosis database (TSC2)	RCV000054859	SCV000066778	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
ITMI	RCV000122209	SCV000086430	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000034646	SCV001807665	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000122209	SCV001925848	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000122209	SCV001976353	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000034646	SCV002036517	likely benign	not provided		no assertion criteria provided	clinical testing