ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5422T>A (p.Ter1808Arg)

dbSNP: rs1567135442
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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 RCV000694871 SCV000823334 uncertain significance Tuberous sclerosis 2 2023-05-07 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 573246). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the TSC2 mRNA. It is expected to extend the length of the TSC2 protein by 19 additional amino acid residues.
Ambry Genetics RCV001024081 SCV001186039 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-23 criteria provided, single submitter clinical testing The c.5422T>A variant (also known as p.*1808Rext*19), located in coding exon 41 of the TSC2 gene, results from a T to A substitution at nucleotide position 5422. This alteration disrupts the stop codon of the TSC2 gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by 19 amino acids. The exact functional effect of the additional amino acids is unknown. Based on the available evidence, the clinical significance of this variant remains unclear.
Genome-Nilou Lab RCV000694871 SCV002040906 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999629 SCV004841244 uncertain significance Tuberous sclerosis syndrome 2023-10-23 criteria provided, single submitter clinical testing This variant changes the translational stop signal of the TSC2 gene to arginine. Translation read-through is expected to extend the length of the TSC2 protein by 19 additional amino acids. To our knowledge, functional studies have not been reported for this variant. 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.

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