ClinVar Miner

Submissions for variant NM_001321120.2(TBX4):c.402-3C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208345 SCV005849348 uncertain significance Coxopodopatellar syndrome criteria provided, single submitter clinical testing The splice site variant c.402-3C>G in the TBX4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0003%) in the gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Pathogenic. The variant affects the AG acceptor splice site upstream to exon 4. Loss of function variants have been previously reported to be disease causing (Galambos et al., 2019). Further studies are required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Uncertain Significance.

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