ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3611-5C>A

dbSNP: rs200194551
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814471 SCV000954883 uncertain significance Tuberous sclerosis 2 2022-10-20 criteria provided, single submitter clinical testing This sequence change falls in intron 30 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. This variant is present in population databases (rs200194551, gnomAD 0.002%). 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: 657785). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Ambry Genetics RCV003353049 SCV004054108 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-19 criteria provided, single submitter clinical testing The c.3611-5C>A intronic variant results from a C to A substitution 5 nucleotides upstream from coding exon 30 in the TSC2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. RNA studies have demonstrated that this alteration results in a splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV004569701 SCV005054446 uncertain significance Isolated focal cortical dysplasia type II 2024-03-11 criteria provided, single submitter clinical testing

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