ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.249G>C (p.Leu83=)

dbSNP: rs2473733978
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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 RCV003067803 SCV003460219 uncertain significance Pierpont syndrome 2022-04-01 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with TBL1XR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 83 of the TBL1XR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TBL1XR1 protein.

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