ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)

dbSNP: rs1555512486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517826 SCV000615901 pathogenic not provided 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000644219 SCV000765910 likely pathogenic Tuberous sclerosis 2 2023-06-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 448728). 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 creates a premature translational stop signal (p.Tyr1250Glnfs*71) 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).
Genome-Nilou Lab RCV000644219 SCV002040983 likely pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424075 SCV004116886 pathogenic TSC2-related condition 2023-10-13 criteria provided, single submitter clinical testing The TSC2 c.3747_3748delGT variant is predicted to result in a frameshift and premature protein termination (p.Tyr1250Glnfs*71). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is interpreted as likely pathogenic and pathogenic in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/448728/). Frameshift variants in TSC2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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