Submissions for variant NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)

gnomAD frequency: 0.00061  dbSNP: rs200494044

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163290	SCV000213818	benign	Hereditary cancer-predisposing syndrome	2015-09-28	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.
GeneDx	RCV000189900	SCV000243558	benign	not specified	2017-09-15	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	RCV000205984	SCV000261806	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000350114	SCV000395599	likely benign	Tuberous sclerosis syndrome	2018-09-12	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	RCV000189900	SCV001476297	benign	not specified	2020-06-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000205984	SCV002041424	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163290	SCV002531028	benign	Hereditary cancer-predisposing syndrome	2020-12-26	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000189900	SCV002774069	benign	not specified	2020-06-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001572810	SCV004010422	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000205984	SCV004016177	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000205984	SCV004360875	benign	Tuberous sclerosis 2	2022-08-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000189900	SCV004813663	likely benign	not specified	2024-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004528906	SCV000305165	benign	TSC2-related disorder	2019-05-02	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572810	SCV001797758	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001572810	SCV001925892	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572810	SCV001975407	likely benign	not provided		no assertion criteria provided	clinical testing