Submissions for variant NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu)

dbSNP: rs796053474

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189915	SCV000243576	likely benign	not specified	2014-03-12	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.
Ambry Genetics	RCV000490959	SCV000579586	uncertain significance	Hereditary cancer-predisposing syndrome	2022-11-16	criteria provided, single submitter	clinical testing	The p.P1109L variant (also known as c.3326C>T), located in coding exon 28 of the TSC2 gene, results from a C to T substitution at nucleotide position 3326. The proline at codon 1109 is replaced by leucine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000546326	SCV000644423	likely benign	Tuberous sclerosis 2	2025-01-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000546326	SCV002039735	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV004998399	SCV005622699	uncertain significance	not provided	2024-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005016535	SCV005645074	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2024-02-14	criteria provided, single submitter	clinical testing