ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.450G>A (p.Gly150=)

gnomAD frequency: 0.00003  dbSNP: rs372000734
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704389 SCV000529228 likely benign not provided 2019-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000473158 SCV000556673 likely benign Tuberous sclerosis 2 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562794 SCV000675715 likely benign Hereditary cancer-predisposing syndrome 2016-05-04 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 RCV000473158 SCV002041223 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000468 SCV004816962 likely benign Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing

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