Submissions for variant NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)

dbSNP: rs137854141

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000201116	SCV000255907	pathogenic	Tuberous sclerosis 2	2014-06-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000201116	SCV000644580	pathogenic	Tuberous sclerosis 2	2017-05-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Phe1645Cysfs*7) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with tuberous sclerosis in 2 families (PMID: 9452050). It has also been reported as de novo in individuals affected with tuberous sclerosis and Wilms tumor (PMID: 21567926, 9452050), but paternity was not confirmed in these individuals. This variant is also known as 4882delTT in the literature. ClinVar contains an entry for this variant (Variation ID: 49981). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000201116	SCV000808051	pathogenic	Tuberous sclerosis 2	2018-06-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000201116	SCV002041007	pathogenic	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043248	SCV000067049	not provided	Tuberous sclerosis syndrome		no assertion provided	curation