ClinVar Miner

Submissions for variant NM_001287491.2(TET3):c.5121_5122dup (p.Leu1708fs)

dbSNP: rs2104234030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026197 SCV002302439 likely pathogenic not provided 2023-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1708Profs*7) in the TET3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 88 amino acid(s) of the TET3 protein. 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: 1513490). This premature translational stop signal has been observed in individual(s) with clinical features of TET3-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).

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