Submissions for variant NM_000548.5(TSC2):c.2784C>T (p.Pro928=)

gnomAD frequency: 0.00086  dbSNP: rs45517267

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125666	SCV000169128	benign	not specified	2012-03-08	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125666	SCV000269919	benign	not specified	2015-09-30	criteria provided, single submitter	clinical testing	p.Pro928Pro in exon 25 of TSC2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.36% (37/10338) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs45517267).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000228595	SCV000285311	benign	Tuberous sclerosis 2	2025-02-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000125666	SCV000344261	likely benign	not specified	2016-08-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000125666	SCV000615896	benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569439	SCV000664721	likely benign	Hereditary cancer-predisposing syndrome	2015-03-23	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	RCV000228595	SCV002039256	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000569439	SCV002533334	benign	Hereditary cancer-predisposing syndrome	2020-08-25	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003311685	SCV004010427	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003311685	SCV004221424	benign	not provided	2017-06-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544256	SCV004761905	likely benign	TSC2-related disorder	2019-12-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).