Submissions for variant NM_000548.5(TSC2):c.1785G>A (p.Gln595=)

gnomAD frequency: 0.00002  dbSNP: rs150352976

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155581	SCV000205287	likely benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Gln595Gln in exon 17 of TSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/4396 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs150352976).
Ambry Genetics	RCV001013173	SCV001173723	likely benign	Hereditary cancer-predisposing syndrome	2019-01-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001400507	SCV001602311	likely benign	Tuberous sclerosis 2	2023-11-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001400507	SCV002041382	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001013173	SCV002531000	uncertain significance	Hereditary cancer-predisposing syndrome	2022-01-04	criteria provided, single submitter	curation