ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.-30+1G>T

dbSNP: rs587778004
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766970 SCV000243724 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327)
Invitae RCV002514612 SCV003521355 uncertain significance Tuberous sclerosis 2 2023-12-22 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the TSC2 gene. It does not change the encoded amino acid sequence of the TSC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs587778004, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 133423). Variants that disrupt 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 may disrupt the consensus splice site. 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.
Baylor Genetics RCV003467065 SCV004205116 uncertain significance Isolated focal cortical dysplasia type II 2022-09-02 criteria provided, single submitter clinical testing
ITMI RCV000119926 SCV000084056 not provided not specified 2013-09-19 no assertion provided reference population

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