ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4194C>T (p.Leu1398=)

gnomAD frequency: 0.00003  dbSNP: rs1060504106
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457375 SCV000556608 likely benign Tuberous sclerosis 2 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000457375 SCV002039438 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329106 SCV002631476 likely benign Hereditary cancer-predisposing syndrome 2020-09-01 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.
Fulgent Genetics, Fulgent Genetics RCV002481490 SCV002798598 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-11-17 criteria provided, single submitter clinical testing

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