ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003505498 SCV004250321 uncertain significance Achondrogenesis, type IA 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 321 of the TRIP11 protein (p.Lys321Glu). This variant is present in population databases (rs147350763, gnomAD 0.03%). 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. 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.
PreventionGenetics, part of Exact Sciences RCV003901102 SCV004709358 uncertain significance TRIP11-related disorder 2024-01-11 criteria provided, single submitter clinical testing The TRIP11 c.961A>G variant is predicted to result in the amino acid substitution p.Lys321Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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