ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2220+4C>G

gnomAD frequency: 0.00005  dbSNP: rs781186613
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727502 SCV000521318 uncertain significance not provided 2023-01-24 criteria provided, single submitter clinical testing In silico analysis 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.; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000574046 SCV000675475 likely benign Hereditary cancer-predisposing syndrome 2022-04-04 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.
Eurofins Ntd Llc (ga) RCV000727502 SCV000709197 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV001079788 SCV000765859 likely benign Tuberous sclerosis 2 2023-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079788 SCV002039627 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574046 SCV002531043 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-27 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003983041 SCV004799965 uncertain significance TSC2-related condition 2024-01-19 criteria provided, single submitter clinical testing The TSC2 c.2220+4C>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. In ClinVar, this variant is interpreted as uncertain/likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/381732/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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