ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3335C>T (p.Pro1112Leu)

gnomAD frequency: 0.00014  dbSNP: rs140440910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001652536 SCV001869803 benign not provided 2020-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539585 SCV003243410 uncertain significance Treacher Collins syndrome 1 2024-02-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1112 of the TCOF1 protein (p.Pro1112Leu). This variant is present in population databases (rs140440910, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TCOF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1250286). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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