ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4481G>C (p.Arg1494Pro)

dbSNP: rs775469397
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002033683 SCV002273418 uncertain significance Achondrogenesis, type IA 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 1494 of the TRIP11 protein (p.Arg1494Pro). The arginine residue is moderately conserved and there is moderate physicochemical difference between arginine and proline. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1487981). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is not present in population databases (gnomAD no frequency).

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