ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1869C>G (p.Ala623=)

dbSNP: rs111244727
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703509 SCV000515025 likely benign not provided 2019-04-15 criteria provided, single submitter clinical testing
Invitae RCV000543083 SCV000644291 likely benign Tuberous sclerosis 2 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574474 SCV000675646 likely benign Hereditary cancer-predisposing syndrome 2017-07-26 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.
Genome-Nilou Lab RCV000543083 SCV002041399 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488892 SCV002794634 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-09-27 criteria provided, single submitter clinical testing

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