ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1048-1G>A

dbSNP: rs1576993734
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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 RCV000801627 SCV000941411 likely pathogenic Pierpont syndrome 2019-01-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 11 of the TBL1XR1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TBL1XR1-related conditions. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TBL1XR1 are known to be pathogenic (PMID: 23160955, 26740553, 27824329). 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.

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