ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.-30+2T>C

gnomAD frequency: 0.00010  dbSNP: rs796053514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190082 SCV000243757 likely benign not specified 2017-10-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Sema4, Sema4 RCV002257484 SCV002533358 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-06 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004530085 SCV004117407 uncertain significance TSC2-related disorder 2024-01-26 no assertion criteria provided clinical testing The TSC2 c.-30+2T>C variant is located in the 5' untranslated region. To our knowledge, this variant has not been reported in the literature. This variant is reported in 2 of ~31,000 alleles in gnomAD. This variant has conflicting interpretations of uncertain significance and likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/207788/). An adjacent nucleotide change has been reported in an individual from an epilepsy and neurodevelopmental disorder cohort study (c.-30+1G>C, Table S4, Lindy et al. 2018. PubMed ID: 29655203). 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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