ClinVar Miner

Submissions for variant NM_018975.4(TERF2IP):c.851C>T (p.Pro284Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004056214 SCV002676730 uncertain significance not specified 2024-10-11 criteria provided, single submitter clinical testing The p.P284L variant (also known as c.851C>T), located in coding exon 3 of the TERF2IP gene, results from a C to T substitution at nucleotide position 851. The proline at codon 284 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103512 SCV003484370 uncertain significance not provided 2025-01-29 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 284 of the TERF2IP protein (p.Pro284Leu). This variant is present in population databases (rs199604402, gnomAD 0.2%), 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 TERF2IP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1763710). 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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