ClinVar Miner

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

dbSNP: rs1567135442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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 2018-10-15 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, which is the last nucleotide of the TSC2 gene. The stop codon at position 1808 is replaced by arginine, resulting in an elongation of the protein by 19 amino acids. The exact functional impact of these inserted amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000694871 SCV002040906 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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