ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3717G>A (p.Glu1239=)

gnomAD frequency: 0.00001  dbSNP: rs765060368
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000929211 SCV001074836 likely benign Tuberous sclerosis 2 2024-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020962 SCV001182513 likely benign Hereditary cancer-predisposing syndrome 2018-04-19 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 RCV000929211 SCV002039363 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803311 SCV005427197 likely benign Tuberous sclerosis syndrome 2024-03-05 criteria provided, single submitter clinical testing

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