ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.109-3del

dbSNP: rs2150398853
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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 RCV001378753 SCV001576393 likely pathogenic Treacher Collins syndrome 1 2021-10-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 1 of the TCOF1 gene. It does not directly change the encoded amino acid sequence of the TCOF1 protein. It affects a nucleotide within the consensus splice site of the intron. This variant has been observed in individual(s) with clinical features of Treacher Collins syndrome (Invitae). In at least one individual the variant was observed to be de novo. Variants that disrupt 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. 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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