Submissions for variant NM_000548.5(TSC2):c.1377C>T (p.Gly459=)

gnomAD frequency: 0.00019  dbSNP: rs45517170

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125649	SCV000169110	benign	not specified	2013-03-05	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.
Ambry Genetics	RCV000163305	SCV000213833	likely benign	Hereditary cancer-predisposing syndrome	2018-08-31	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	RCV000233975	SCV000285241	benign	Tuberous sclerosis 2	2025-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042409	SCV000395579	likely benign	Tuberous sclerosis syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV000233975	SCV000677535	benign	Tuberous sclerosis 2	2017-05-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000233975	SCV002041332	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163305	SCV002532779	likely benign	Hereditary cancer-predisposing syndrome	2020-12-30	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003221793	SCV003917450	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000233975	SCV004016211	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042409	SCV000066200	not provided	Tuberous sclerosis syndrome		no assertion provided	curation