Submissions for variant NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)

dbSNP: rs45517352

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000190034	SCV000243707	pathogenic	not provided	2014-11-20	criteria provided, single submitter	clinical testing	p.Gln1525Ter (CAG>TAG): c.4573 C>T in exon 36 of the TSC2 gene (NM_000548.3)The Q1525X nonsense mutation in the TSC2 gene has been reported previously in association with tuberous sclerosis (Langkau et al., 2002; TSC2 LOVD). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s).
Invitae	RCV001042432	SCV001206111	pathogenic	Tuberous sclerosis 2	2023-07-17	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: 49306). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 12111193). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1525*) 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	RCV001042432	SCV002041001	pathogenic	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042565	SCV000066359	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV001042432	SCV001364439	pathogenic	Tuberous sclerosis 2	2020-06-11	no assertion criteria provided	clinical testing