ClinVar Miner

Submissions for variant NM_018975.4(TERF2IP):c.764T>C (p.Val255Ala)

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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 RCV004874493 SCV005512263 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing The p.V255A variant (also known as c.764T>C), located in coding exon 2 of the TERF2IP gene, results from a T to C substitution at nucleotide position 764. The valine at codon 255 is replaced by alanine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061607 SCV005711384 uncertain significance not provided 2024-08-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 255 of the TERF2IP protein (p.Val255Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TERF2IP-related conditions. 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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