ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3777del (p.Ser1259fs)

dbSNP: rs1114167459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490848 SCV000579583 pathogenic Hereditary cancer-predisposing syndrome 2015-12-30 criteria provided, single submitter clinical testing The c.3777delC pathogenic mutation, located in coding exon 30 of the TSC2 gene, results from a deletion of one nucleotide at position 3777, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV002523430 SCV003343238 pathogenic Tuberous sclerosis 2 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1259Argfs*66) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (gnomAD no frequency). 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: 427987). For these reasons, this variant has been classified as Pathogenic.

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