ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4570-3C>T

gnomAD frequency: 0.00001  dbSNP: rs1166715944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607674 SCV000727104 likely benign not specified 2018-01-29 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.
Invitae RCV001047763 SCV001211743 uncertain significance Tuberous sclerosis 2 2021-02-05 criteria provided, single submitter clinical testing This sequence change falls in intron 35 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein, but it affects a nucleotide within the consensus splice site of the intron. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 515115). This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV001047763 SCV002040207 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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