ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1945A>G (p.Met649Val)

gnomAD frequency: 0.00001  dbSNP: rs762331610
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559856 SCV000644301 benign Tuberous sclerosis 2 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576099 SCV000675749 likely benign Hereditary cancer-predisposing syndrome 2021-08-09 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.
GeneDx RCV001558235 SCV001780139 likely benign not provided 2019-01-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000559856 SCV002039594 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000559856 SCV004236977 uncertain significance Tuberous sclerosis 2 2023-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999261 SCV004814951 likely benign Tuberous sclerosis syndrome 2023-05-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000559856 SCV005406217 likely benign Tuberous sclerosis 2 2024-08-12 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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