ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.674G>A (p.Arg225Gln)

gnomAD frequency: 0.00005  dbSNP: rs746390355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001903395 SCV002161498 uncertain significance Achondrogenesis, type IA 2022-08-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs746390355, gnomAD 0.007%). This sequence change replaces arginine with glutamine at codon 225 of the TRIP11 protein (p.Arg225Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1397214).

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