Submissions for variant NM_000548.5(TSC2):c.1626C>A (p.Pro542=)

dbSNP: rs376234285

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001720159	SCV000522782	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing
Invitae	RCV000538918	SCV000644265	benign	Tuberous sclerosis 2	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001012469	SCV001172926	likely benign	Hereditary cancer-predisposing syndrome	2018-10-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000538918	SCV002041361	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001012469	SCV002530973	benign	Hereditary cancer-predisposing syndrome	2021-08-23	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003972617	SCV004794406	likely benign	TSC2-related condition	2019-03-21	criteria provided, single submitter	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).