Submissions for variant NM_000548.5(TSC2):c.885C>T (p.Ala295=)

gnomAD frequency: 0.00001  dbSNP: rs778296481

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000610089	SCV000722181	likely benign	not specified	2017-08-14	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958380	SCV001105216	likely benign	Tuberous sclerosis 2	2024-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018416	SCV001179652	likely benign	Hereditary cancer-predisposing syndrome	2019-10-23	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.
Genome-Nilou Lab	RCV000958380	SCV002041278	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002534	SCV004817033	likely benign	Tuberous sclerosis syndrome	2023-12-01	criteria provided, single submitter	clinical testing