Submissions for variant NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys)

gnomAD frequency: 0.00008  dbSNP: rs397514938

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000567237	SCV000664669	benign	Hereditary cancer-predisposing syndrome	2022-10-06	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000604817	SCV000725721	benign	not specified	2018-01-03	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	RCV000969711	SCV001117240	benign	Tuberous sclerosis 2	2024-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000969711	SCV002039737	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000055121	SCV000083339	not provided	Tuberous sclerosis syndrome		no assertion provided	curation