Submissions for variant NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly)

dbSNP: rs1060500923

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461553	SCV000544355	benign	Tuberous sclerosis 2	2023-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001019998	SCV001181419	uncertain significance	Hereditary cancer-predisposing syndrome	2024-01-03	criteria provided, single submitter	clinical testing	The p.A1110G variant (also known as c.3329C>G), located in coding exon 28 of the TSC2 gene, results from a C to G substitution at nucleotide position 3329. The alanine at codon 1110 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Genome-Nilou Lab	RCV000461553	SCV002040762	uncertain significance	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004721366	SCV005329851	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TSC2: BS2