Submissions for variant NM_000548.5(TSC2):c.226C>T (p.His76Tyr)

dbSNP: rs574779350

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721240	SCV000243756	benign	not provided	2019-01-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28250423)
Illumina Laboratory Services, Illumina	RCV000367424	SCV000395551	likely benign	Tuberous sclerosis syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000470663	SCV000544588	benign	Tuberous sclerosis 2	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565361	SCV000675571	benign	Hereditary cancer-predisposing syndrome	2022-06-03	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000470663	SCV002041045	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001721240	SCV004221415	uncertain significance	not provided	2011-02-03	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000470663	SCV004236976	uncertain significance	Tuberous sclerosis 2	2023-06-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001721240	SCV004698802	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TSC2: PP3, BS1