Submissions for variant NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys)

gnomAD frequency: 0.00002  dbSNP: rs759786102

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000707088	SCV000836169	likely benign	Tuberous sclerosis 2	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001575500	SCV001802508	likely benign	not provided	2020-12-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000707088	SCV002039268	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002440551	SCV002752491	uncertain significance	Hereditary cancer-predisposing syndrome	2021-08-15	criteria provided, single submitter	clinical testing	The p.S983C variant (also known as c.2948C>G), located in coding exon 25 of the TSC2 gene, results from a C to G substitution at nucleotide position 2948. The serine at codon 983 is replaced by cysteine, an amino acid with dissimilar 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.
PreventionGenetics, part of Exact Sciences	RCV004544953	SCV004773843	likely benign	TSC2-related disorder	2023-12-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).