Submissions for variant NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)

dbSNP: rs45448101

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000302325	SCV000329790	pathogenic	not provided	2023-07-19	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17304050, 32555378, 28087349, 29432982, 10205261, 19254590, 26408672, 25525159, 11179769, 36232477, 9302281)
Invitae	RCV001048099	SCV001212088	pathogenic	Tuberous sclerosis 2	2022-06-28	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49340). This variant is also known as 5011C>T. This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 9302281, 28087349). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1665*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050).
Genome-Nilou Lab	RCV001048099	SCV002041012	pathogenic	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV001048099	SCV002549160	pathogenic	Tuberous sclerosis 2	2022-07-19	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042600	SCV000066394	not provided	Tuberous sclerosis syndrome		no assertion provided	curation