ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val)

gnomAD frequency: 0.00003  dbSNP: rs781135139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222013 SCV000270949 likely benign not specified 2016-02-07 criteria provided, single submitter clinical testing p.Ile1928Val in exon 16 of TRIOBP: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, Rhesus, crab-eating macaque, baboon, and green monkey have a valine (Val ) at this position. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV001853421 SCV002115118 uncertain significance not provided 2024-09-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1928 of the TRIOBP protein (p.Ile1928Val). This variant is present in population databases (rs781135139, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TRIOBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 228038). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001853421 SCV003923364 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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