Submissions for variant NM_000548.5(TSC2):c.1443+4C>T

gnomAD frequency: 0.00024  dbSNP: rs45517172

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189887	SCV000243543	benign	not specified	2014-11-20	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.
Invitae	RCV000989418	SCV000285244	benign	Tuberous sclerosis 2	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565280	SCV000675485	likely benign	Hereditary cancer-predisposing syndrome	2019-01-04	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.
Mendelics	RCV000989418	SCV001139740	likely benign	Tuberous sclerosis 2	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000043007	SCV001274016	uncertain significance	Tuberous sclerosis syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab	RCV000989418	SCV002039546	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000565280	SCV002532786	benign	Hereditary cancer-predisposing syndrome	2021-01-27	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV002262603	SCV002545341	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000989418	SCV004016144	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043007	SCV000066805	not provided	Tuberous sclerosis syndrome		no assertion provided	curation