ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3814+5G>A

dbSNP: rs1555512582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644087 SCV000765777 likely benign Tuberous sclerosis 2 2024-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303039 SCV004001451 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The c.3814+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 30 in the TSC2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003990 SCV004822262 uncertain significance Tuberous sclerosis syndrome 2023-12-18 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +5 position of intron 31 of the TSC2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing, although this prediction has not been confirmed in published RNA studies. This variant has not been reported in individuals affected with TSC2-related disorders in the literature. This variant has not been identified 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.
Fulgent Genetics, Fulgent Genetics RCV005019070 SCV005645091 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing

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