Submissions for variant NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)

gnomAD frequency: 0.00002  dbSNP: rs200929621

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458103	SCV000544469	benign	Tuberous sclerosis 2	2025-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001015427	SCV001176256	likely benign	Hereditary cancer-predisposing syndrome	2019-03-07	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.
Illumina Laboratory Services, Illumina	RCV001119144	SCV001277495	likely benign	Tuberous sclerosis syndrome	2017-04-27	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV000458103	SCV002041466	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001015427	SCV002531066	benign	Hereditary cancer-predisposing syndrome	2022-01-18	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV004703999	SCV004221417	likely benign	not specified	2022-12-28	criteria provided, single submitter	clinical testing	The frequency of this variant in the general population (http://gnomad.broadinstitute.org) is higher than would generally be expected for pathogenic variants in this gene. Computational tools predict this amino acid change may be benign.
Myriad Genetics, Inc.	RCV000458103	SCV005404676	likely benign	Tuberous sclerosis 2	2024-08-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
PreventionGenetics, part of Exact Sciences	RCV004539938	SCV004785971	likely benign	TSC2-related disorder	2024-02-15	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).