Submissions for variant NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)

dbSNP: rs45517327

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000201169	SCV000255896	pathogenic	Tuberous sclerosis 2	2013-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000760364	SCV000890226	pathogenic	not provided	2018-09-21	criteria provided, single submitter	clinical testing	The E1366X variant in the TSC2 gene, also reported as E1343X, has been reported previously in unrelated individuals with Tuberous Sclerosis Complex (Dabora et al., 2001; Yu et al., 2017). Both reported cases were considered sporadic; one individual, a 21 month old female, presented with seizures at 10 months of age, hypopigmented macules, and cortical tubers, but did not have facial angiofibromas nor cardiac rhabdomyomas (Yu et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E1366X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E1366X as a pathogenic variant
Genome-Nilou Lab	RCV000201169	SCV002040989	pathogenic	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042815	SCV000066611	not provided	Tuberous sclerosis syndrome		no assertion provided	curation