Submissions for variant NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)

gnomAD frequency: 0.00041  dbSNP: rs118203670

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000130869	SCV000185770	benign	Hereditary cancer-predisposing syndrome	2014-12-03	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	RCV000189820	SCV000243472	benign	not specified	2016-05-03	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	RCV001083830	SCV000284698	benign	Tuberous sclerosis 1	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000189820	SCV000303860	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083830	SCV000478207	likely benign	Tuberous sclerosis 1	2019-03-22	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.
Illumina Laboratory Services, Illumina	RCV000270998	SCV000478208	likely benign	Isolated focal cortical dysplasia type II	2019-03-22	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000189820	SCV000540596	uncertain significance	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Functional study does not support pathogenicity; ExAC: 0.1% (37/66740) European chromosomes
Athena Diagnostics	RCV000713909	SCV000844552	benign	not provided	2018-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713909	SCV001155796	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TSC1: BP4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000713909	SCV002009245	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001083830	SCV002040054	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000130869	SCV002528860	benign	Hereditary cancer-predisposing syndrome	2020-05-22	criteria provided, single submitter	curation
Institute of Human Genetics, University Hospital of Duesseldorf	RCV001083830	SCV004046674	uncertain significance	Tuberous sclerosis 1		criteria provided, single submitter	not provided
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000713909	SCV004221389	benign	not provided	2018-01-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001083830	SCV004360815	benign	Tuberous sclerosis 1	2022-08-31	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC1)	RCV000042182	SCV000065968	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000713909	SCV001809560	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000713909	SCV001924893	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000189820	SCV001972509	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000713909	SCV001978218	likely benign	not provided		no assertion criteria provided	clinical testing