ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.2558G>A (p.Arg853Gln)

gnomAD frequency: 0.00001  dbSNP: rs749954388
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001915745 SCV002178530 uncertain significance Achondrogenesis, type IA 2022-02-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs749954388, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 853 of the TRIP11 protein (p.Arg853Gln). 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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