Submissions for variant NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)

gnomAD frequency: 0.00001  dbSNP: rs150126331

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000552377	SCV000644418	benign	Tuberous sclerosis 2	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001019748	SCV001181145	likely benign	Hereditary cancer-predisposing syndrome	2019-08-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina	RCV001116224	SCV001274274	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001553545	SCV001774432	likely benign	not provided	2020-06-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000552377	SCV002039733	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001019748	SCV002533382	likely benign	Hereditary cancer-predisposing syndrome	2022-01-27	criteria provided, single submitter	curation