Submissions for variant NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)

gnomAD frequency: 0.00001  dbSNP: rs397515142

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000560840	SCV000644238	benign	Tuberous sclerosis 2	2024-12-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001580066	SCV000723740	likely benign	not provided	2018-07-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15798777, 21309039)
Genome-Nilou Lab	RCV000560840	SCV002041329	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381357	SCV002702209	likely benign	Hereditary cancer-predisposing syndrome	2020-01-10	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001580066	SCV005216968	likely benign	not provided		criteria provided, single submitter	not provided
Tuberous sclerosis database (TSC2)	RCV000055407	SCV000083628	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580066	SCV001809547	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580066	SCV001964899	uncertain significance	not provided		no assertion criteria provided	clinical testing