ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.106+4A>G

gnomAD frequency: 0.00001  dbSNP: rs373075566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204051 SCV001375239 likely benign Tuberous sclerosis 1 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402582 SCV002713480 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-22 criteria provided, single submitter clinical testing The c.106+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 1 in the TSC1 gene. This nucleotide position is highly 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 donor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003473742 SCV004204469 uncertain significance Isolated focal cortical dysplasia type II 2023-06-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010634 SCV004828123 uncertain significance Tuberous sclerosis syndrome 2023-08-28 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the +4 position of intron 3 of the TSC1 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has been identified in 1/250868 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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