ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002942587 SCV003271869 uncertain significance Achondrogenesis, type IA 2022-07-05 criteria provided, single submitter clinical testing 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 alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs768198425, gnomAD 0.004%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 709 of the TRIP11 protein (p.Thr709Ala).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003111606 SCV003799586 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing The TRIP11 c.2125A>G; p.Thr709Ala variant (rs768198425), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.0018% (5/282,106 alleles) in the Genome Aggregation Database. The threonine at codon 709 is moderately conserved, but computational analyses predict that this variant is neutral (REVEL: 0.058). Due to limited information, the clinical significance of the p.Thr709Ala variant is uncertain at this time.

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