Submissions for variant NM_000548.5(TSC2):c.2415C>T (p.Val805=)

gnomAD frequency: 0.00002  dbSNP: rs45517235

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000438807	SCV000534367	likely benign	not specified	2017-06-22	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	RCV000644322	SCV000766015	likely benign	Tuberous sclerosis 2	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001015271	SCV001176087	likely benign	Hereditary cancer-predisposing syndrome	2018-01-19	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	RCV000644322	SCV002041468	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042991	SCV000066789	not provided	Tuberous sclerosis syndrome		no assertion provided	curation