Submissions for variant NM_000368.5(TSC1):c.555C>T (p.Tyr185=)

gnomAD frequency: 0.00001  dbSNP: rs118203398

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703929	SCV000530420	likely benign	not provided	2018-08-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10363127, 9924605)
Invitae	RCV000460407	SCV000562505	benign	Tuberous sclerosis 1	2024-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001024274	SCV001186259	likely benign	Hereditary cancer-predisposing syndrome	2018-01-02	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	RCV000460407	SCV002040503	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000042308	SCV004840532	likely benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC1)	RCV000042308	SCV000066097	not provided	Tuberous sclerosis syndrome		no assertion provided	curation