ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2859C>T (p.Pro953=)

gnomAD frequency: 0.00004  dbSNP: rs397514968
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088583 SCV000644387 likely benign Tuberous sclerosis 2 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000527425 SCV001150708 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088583 SCV002039261 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433550 SCV002748201 likely benign Hereditary cancer-predisposing syndrome 2017-11-13 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.
GeneDx RCV000527425 SCV003842700 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Tuberous sclerosis database (TSC2) RCV000055161 SCV000083379 not provided Tuberous sclerosis syndrome no assertion provided curation

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