ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1534C>G (p.Leu512Val)

gnomAD frequency: 0.00001  dbSNP: rs772834557
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189982 SCV000243653 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Invitae RCV001083877 SCV000285247 likely benign Tuberous sclerosis 2 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012067 SCV001172469 likely benign Hereditary cancer-predisposing syndrome 2022-02-16 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 RCV001083877 SCV002039552 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001083877 SCV004360864 likely benign Tuberous sclerosis 2 2022-09-20 criteria provided, single submitter clinical testing

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