Submissions for variant NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr)

gnomAD frequency: 0.00034  dbSNP: rs786203769

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000819482	SCV000960146	benign	Tuberous sclerosis 2	2024-01-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001023722	SCV001185637	benign	Hereditary cancer-predisposing syndrome	2021-09-28	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.
Baylor Genetics	RCV000819482	SCV001482868	uncertain significance	Tuberous sclerosis 2	2019-03-27	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab	RCV000819482	SCV002040883	uncertain significance	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004735820	SCV005346910	likely benign	TSC2-related disorder	2024-08-13	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).