Submissions for variant NM_000548.5(TSC2):c.2294C>T (p.Ala765Val)

gnomAD frequency: 0.00002  dbSNP: rs886042145

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000515105	SCV000332152	uncertain significance	not provided	2017-05-03	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515105	SCV000609891	uncertain significance	not provided	2017-05-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564756	SCV000675591	uncertain significance	Hereditary cancer-predisposing syndrome	2023-09-06	criteria provided, single submitter	clinical testing	The p.A765V variant (also known as c.2294C>T), located in coding exon 20 of the TSC2 gene, results from a C to T substitution at nucleotide position 2294. The alanine at codon 765 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae	RCV001086437	SCV000818074	benign	Tuberous sclerosis 2	2023-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001086437	SCV002039636	uncertain significance	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564756	SCV002531054	uncertain significance	Hereditary cancer-predisposing syndrome	2021-11-15	criteria provided, single submitter	curation
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV001086437	SCV002577470	uncertain significance	Tuberous sclerosis 2	2021-12-15	criteria provided, single submitter	clinical testing	PM2, PP2, BP1