ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)

gnomAD frequency: 0.00003  dbSNP: rs397515103
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535385 SCV000644571 likely benign Tuberous sclerosis 2 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566134 SCV000675465 likely benign Hereditary cancer-predisposing syndrome 2017-05-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV001697041 SCV000727975 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000535385 SCV002039527 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566134 SCV002533975 likely benign Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002490631 SCV002800640 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-02-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697041 SCV004129871 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001697041 SCV004221461 uncertain significance not provided 2013-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964907 SCV004777503 likely benign TSC2-related condition 2020-02-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Tuberous sclerosis database (TSC2) RCV000055349 SCV000083569 not provided Tuberous sclerosis syndrome no assertion provided curation

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