ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg)

gnomAD frequency: 0.00001  dbSNP: rs1407474606
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043584 SCV001207337 uncertain significance Achondrogenesis, type IA 2022-10-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. 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: 841378). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1402 of the TRIP11 protein (p.Gln1402Arg).

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