ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.2366A>G (p.His789Arg)

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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 RCV004476307 SCV004971595 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.2366A>G (p.H789R) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a A to G substitution at nucleotide position 2366, causing the histidine (H) at amino acid position 789 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104758 SCV005759920 uncertain significance Achondrogenesis, type IA 2024-09-16 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 789 of the TRIP11 protein (p.His789Arg). This variant is present in population databases (rs139118524, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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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