Submissions for variant NM_000548.5(TSC2):c.2090dup (p.Leu697fs) (rs137854189)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000497886	SCV000589552	pathogenic	not provided	2017-06-20	criteria provided, single submitter	clinical testing	The c.2090dupT pathogenic variant in the TSC2 gene has been reported previously in an individual with a clinical diagnosis of TSC (Rendtorff et al., 2005). The duplication causes a frameshift starting with codon Leucine 697, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Leu697PhefsX6. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.2090dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of c.2090dupT is consistent with a diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2)	RCV000042912	SCV000066708	not provided	Tuberous sclerosis syndrome		no assertion provided	curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.