Submissions for variant NM_000548.5(TSC2):c.3333G>A (p.Lys1111=)

gnomAD frequency: 0.00006  dbSNP: rs557648435

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125671	SCV000169133	benign	not specified	2013-08-07	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	RCV000233200	SCV000285341	benign	Tuberous sclerosis 2	2025-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344533	SCV000395625	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). 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.
Ambry Genetics	RCV000563490	SCV000664654	likely benign	Hereditary cancer-predisposing syndrome	2016-06-03	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.
Genome-Nilou Lab	RCV000233200	SCV002039314	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000563490	SCV002533388	benign	Hereditary cancer-predisposing syndrome	2021-08-03	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000233200	SCV004016154	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003456369	SCV004184504	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV000344533	SCV004817477	benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing