ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1863G>A (p.Leu621=)

gnomAD frequency: 0.00001  dbSNP: rs1485599658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573111 SCV000675706 likely benign Hereditary cancer-predisposing syndrome 2016-02-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000892732 SCV001036629 likely benign Tuberous sclerosis 2 2023-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000892732 SCV002041396 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001161 SCV004814934 likely benign Tuberous sclerosis syndrome 2023-09-05 criteria provided, single submitter clinical testing

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