Submissions for variant NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)

dbSNP: rs748936673

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000644107	SCV000765797	benign	Tuberous sclerosis 2	2023-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001568107	SCV001791921	uncertain significance	not provided	2023-10-13	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV000644107	SCV002040893	uncertain significance	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002343304	SCV002647171	uncertain significance	Hereditary cancer-predisposing syndrome	2022-05-21	criteria provided, single submitter	clinical testing	The p.P1766L variant (also known as c.5297C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5297. The proline at codon 1766 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. 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.