ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val)

dbSNP: rs542557164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810811 SCV002049192 uncertain significance not provided 2021-05-12 criteria provided, single submitter clinical testing The TRIP11 c.5068A>G, p.Met1690Val variant (rs542557164), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.02% (47/282,116 alleles) in the Genome Aggregation Database. The methionine at codon 1690 is moderately conserved, and computational analyses predict that this variant is neutral (REVEL: 0.147). Based on the available information, the clinical significance of this variant is uncertain.
Invitae RCV002542333 SCV003290642 uncertain significance Achondrogenesis, type IA 2022-08-22 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 valine 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: 1330477). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs542557164, gnomAD 0.2%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1690 of the TRIP11 protein (p.Met1690Val).

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