ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)

gnomAD frequency: 0.00001  dbSNP: rs876658185
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221694 SCV000273105 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 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 RCV000459891 SCV000556657 likely benign Tuberous sclerosis 2 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001582740 SCV001811005 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000459891 SCV002039892 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494581 SCV002801156 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-02-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997768 SCV004830190 likely benign Tuberous sclerosis syndrome 2023-06-08 criteria provided, single submitter clinical testing

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