Submissions for variant NM_000548.5(TSC2):c.4905C>T (p.Cys1635=)

gnomAD frequency: 0.00017  dbSNP: rs397514999

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166615	SCV000217419	likely benign	Hereditary cancer-predisposing syndrome	2014-10-30	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.
GeneDx	RCV000426850	SCV000515053	benign	not specified	2015-04-14	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.
Invitae	RCV001079565	SCV000556518	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001079565	SCV002039869	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166615	SCV002533987	benign	Hereditary cancer-predisposing syndrome	2020-10-01	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003895154	SCV004710422	likely benign	TSC2-related condition	2023-07-19	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).