ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)

gnomAD frequency: 0.00013  dbSNP: rs200528850
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Total submissions: 4
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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 RCV000215900 SCV000272563 likely benign not specified 2021-01-14 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Fulgent Genetics, Fulgent Genetics RCV000765640 SCV000896969 uncertain significance Autosomal recessive nonsyndromic hearing loss 28 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001857752 SCV002295041 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2172 of the TRIOBP protein (p.Arg2172Gln). This variant is present in population databases (rs200528850, gnomAD 0.08%). 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: 229368). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001857752 SCV002756991 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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