Submissions for variant NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn)

dbSNP: rs376573446

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471506	SCV000544296	benign	Tuberous sclerosis 2	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001012244	SCV001172673	likely benign	Hereditary cancer-predisposing syndrome	2021-11-30	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.
GeneDx	RCV001564370	SCV001787526	likely benign	not provided	2019-06-12	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28717660)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001564370	SCV002011353	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000471506	SCV002039553	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001012244	SCV002530969	uncertain significance	Hereditary cancer-predisposing syndrome	2021-11-18	criteria provided, single submitter	curation