Submissions for variant NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)

gnomAD frequency: 0.00468  dbSNP: rs150397923

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000122235	SCV000169151	benign	not specified	2014-02-12	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	RCV000163417	SCV000213960	benign	Hereditary cancer-predisposing syndrome	2014-12-09	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000223969	SCV000280630	likely benign	not provided	2015-08-19	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226742	SCV000285396	benign	Tuberous sclerosis 2	2025-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000122235	SCV000305220	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000122235	SCV000336911	benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000055339	SCV000395654	likely benign	Tuberous sclerosis syndrome	2018-03-12	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV000122235	SCV000677548	benign	not specified	2024-10-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000226742	SCV002039450	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000122235	SCV002069998	benign	not specified	2021-07-27	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000055339	SCV004817496	benign	Tuberous sclerosis syndrome	2024-10-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000223969	SCV005875559	benign	not provided	2024-06-06	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000226742	SCV005880415	benign	Tuberous sclerosis 2	2025-02-01	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000055339	SCV000083559	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
ITMI	RCV000122235	SCV000086458	not provided	not specified	2013-09-19	no assertion provided	reference population