Submissions for variant NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)

gnomAD frequency: 0.00013  dbSNP: rs142954164

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166118	SCV000216888	likely benign	Hereditary cancer-predisposing syndrome	2018-06-05	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082367	SCV000641612	benign	Tuberous sclerosis 1	2024-01-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000733529	SCV000861606	uncertain significance	not provided	2018-06-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000733529	SCV001915253	benign	not provided	2021-02-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001082367	SCV002040019	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001082367	SCV005404677	likely benign	Tuberous sclerosis 1	2024-08-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.