ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.205-7A>G

dbSNP: rs1717116134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317833 SCV001508510 pathogenic Pierpont syndrome 2021-12-01 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the TBL1XR1 gene. It does not directly change the encoded amino acid sequence of the TBL1XR1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of TBL1XR1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1018524). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV003346458 SCV004041900 likely pathogenic Intellectual disability, autosomal dominant 41 2023-10-13 criteria provided, single submitter clinical testing Sanger sequencing of cDNA from mRNA isolated from blood has shown that the variant has an effect on splicing.

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