Submissions for variant NM_000368.5(TSC1):c.201A>G (p.Pro67=)

gnomAD frequency: 0.00016  dbSNP: rs371555137

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125623	SCV000169080	benign	not specified	2014-02-05	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	RCV001082445	SCV000284688	benign	Tuberous sclerosis 1	2025-02-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125623	SCV000303856	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000567969	SCV000675371	likely benign	Hereditary cancer-predisposing syndrome	2015-08-21	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.
Eurofins Ntd Llc (ga)	RCV000731870	SCV000859732	uncertain significance	not provided	2018-03-07	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125623	SCV000966545	likely benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Pro67Pro in exon 4 of TSC1: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/8600 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
Genome-Nilou Lab	RCV001082445	SCV002040177	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000567969	SCV002530950	benign	Hereditary cancer-predisposing syndrome	2021-09-25	criteria provided, single submitter	curation
Color Diagnostics, LLC DBA Color Health	RCV001082445	SCV004360836	benign	Tuberous sclerosis 1	2022-05-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997434	SCV004840559	benign	Tuberous sclerosis syndrome	2023-12-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000731870	SCV005431931	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	TSC1: BP4, BP7