ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003614419 SCV004389632 uncertain significance Achondrogenesis, type IA 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1535 of the TRIP11 protein (p.Met1535Thr). This variant is present in population databases (rs370729603, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TRIP11 protein function with a negative predictive value of 80%. 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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