Submissions for variant NM_000548.5(TSC2):c.948G>A (p.Pro316=)

gnomAD frequency: 0.00379  dbSNP: rs45517141

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125639	SCV000169100	benign	not specified	2013-03-01	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.
Ambry Genetics	RCV000163422	SCV000213966	likely benign	Hereditary cancer-predisposing syndrome	2015-01-01	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	RCV001083605	SCV000261549	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125639	SCV000305262	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756828	SCV000884755	benign	not provided	2022-11-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125639	SCV000966344	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Pro316Pro in exon 10 of TSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.3% (56/4392) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs45517141).
Athena Diagnostics	RCV000756828	SCV001146292	benign	not provided	2018-11-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001083605	SCV002041280	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163422	SCV002534127	benign	Hereditary cancer-predisposing syndrome	2020-03-23	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002483042	SCV002803071	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2021-07-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756828	SCV002822234	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001083605	SCV004016134	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000042655	SCV004823410	benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000756828	SCV005216964	likely benign	not provided		criteria provided, single submitter	not provided
Tuberous sclerosis database (TSC2)	RCV000042655	SCV000066450	not provided	Tuberous sclerosis syndrome		no assertion provided	curation