Submissions for variant NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)

gnomAD frequency: 0.00001  dbSNP: rs748947919

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000604792	SCV000726597	likely benign	not specified	2018-01-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000644420	SCV000766113	benign	Tuberous sclerosis 2	2023-12-06	criteria provided, single submitter	clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV000644420	SCV000890947	uncertain significance	Tuberous sclerosis 2	2020-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000644420	SCV002040287	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258972	SCV002534057	likely benign	Hereditary cancer-predisposing syndrome	2021-04-30	criteria provided, single submitter	curation
Ambry Genetics	RCV002258972	SCV002643245	uncertain significance	Hereditary cancer-predisposing syndrome	2023-10-16	criteria provided, single submitter	clinical testing	The p.Q1779R variant (also known as c.5336A>G), located in coding exon 41 of the TSC2 gene, results from an A to G substitution at nucleotide position 5336. The glutamine at codon 1779 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well 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.