ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.145+3A>G

dbSNP: rs2147847929
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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 RCV001932306 SCV002117862 uncertain significance Pitt-Hopkins syndrome 2021-07-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the TCF4 gene. It does not directly change the encoded amino acid sequence of the TCF4 protein. It affects a nucleotide within the consensus splice site of the intron. This variant has not been reported in the literature in individuals affected with TCF4-related conditions. 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. 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.

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