ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.1363A>G (p.Thr455Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002621082 SCV003511709 uncertain significance not provided 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 455 of the TELO2 protein (p.Thr455Ala). This variant is present in population databases (rs764823412, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with TELO2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Ambry Genetics RCV004963501 SCV005512529 uncertain significance Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing The c.1363A>G (p.T455A) alteration is located in exon 11 (coding exon 10) of the TELO2 gene. This alteration results from a A to G substitution at nucleotide position 1363, causing the threonine (T) at amino acid position 455 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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