ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3281A>C (p.Tyr1094Ser)

dbSNP: rs1378528757
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001962550 SCV002207694 uncertain significance Achondrogenesis, type IA 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 1094 of the TRIP11 protein (p.Tyr1094Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1434836). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions.

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