ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3658T>C (p.Ser1220Pro)

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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 RCV002918378 SCV003256587 uncertain significance Treacher Collins syndrome 1 2023-04-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs746397186, gnomAD 0.008%). 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: 2047883). 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 disruptive. 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. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1219 of the TCOF1 protein (p.Ser1219Pro).

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