ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3054C>T (p.Leu1018=)

gnomAD frequency: 0.00001  dbSNP: rs762570079
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230537 SCV000285329 likely benign Tuberous sclerosis 2 2023-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001311414 SCV001999399 uncertain significance not provided 2019-10-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Genome-Nilou Lab RCV000230537 SCV002039712 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444887 SCV002753575 likely benign Hereditary cancer-predisposing syndrome 2022-01-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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