Submissions for variant NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter)

dbSNP: rs886041919

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000403179	SCV000330722	pathogenic	not provided	2016-07-29	criteria provided, single submitter	clinical testing	The Q1532X nonsense variant in the TSC2 gene has been reported multiple times previously inassociation with TSC (TSC2 LOVD). This pathogenic variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000550192	SCV000644555	pathogenic	Tuberous sclerosis 2	2021-11-23	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: 280774). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1532*) 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	RCV000550192	SCV002041002	pathogenic	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing