ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4434A>T (p.Glu1478Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002750362 SCV003016454 uncertain significance Achondrogenesis, type IA 2022-02-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1478 of the TRIP11 protein (p.Glu1478Asp). This variant is present in population databases (rs201733332, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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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