ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4512C>G (p.Leu1504=)

dbSNP: rs771595886
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464625 SCV000556549 benign Tuberous sclerosis 2 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313198 SCV000847878 likely benign Hereditary cancer-predisposing syndrome 2016-08-12 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.
Genome-Nilou Lab RCV000464625 SCV002039480 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496802 SCV002805217 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-09-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002069 SCV004826782 likely benign Tuberous sclerosis syndrome 2023-12-01 criteria provided, single submitter clinical testing

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