ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.510+5G>A (rs1555226301)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618557 SCV000737762 uncertain significance Cardiovascular phenotype 2016-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille RCV000763794 SCV000920833 likely pathogenic Holt-Oram syndrome 2018-06-14 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763794 SCV000894708 uncertain significance Holt-Oram syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000685360 SCV000812838 uncertain significance Aortic valve disease 2 2018-07-25 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the TBX5 gene. It does not directly change the encoded amino acid sequence of the TBX5 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TBX5-related disease. ClinVar contains an entry for this variant (Variation ID: 519342). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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