Submissions for variant NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)

gnomAD frequency: 0.00001  dbSNP: rs758511419

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732364	SCV000860316	uncertain significance	not provided	2018-03-29	criteria provided, single submitter	clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV000761152	SCV000891068	uncertain significance	Tuberous sclerosis syndrome	2021-08-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001797789	SCV002040592	uncertain significance	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001797789	SCV002261332	benign	Tuberous sclerosis 2	2024-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002458345	SCV002614050	uncertain significance	Hereditary cancer-predisposing syndrome	2022-08-04	criteria provided, single submitter	clinical testing	The p.T382I variant (also known as c.1145C>T), located in coding exon 11 of the TSC2 gene, results from a C to T substitution at nucleotide position 1145. The threonine at codon 382 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV002485913	SCV002782987	uncertain significance	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2021-11-05	criteria provided, single submitter	clinical testing