ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp)

gnomAD frequency: 0.00019  dbSNP: rs200411253
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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 RCV000155715 SCV000205425 uncertain significance not specified 2013-06-05 criteria provided, single submitter clinical testing The Gly2268Asp variant in TRIOBP has not been reported in individuals with heari ng loss. Data from large population studies is insufficient to assess the freque ncy of this variant. This variant has been reported in the dbSNP without any pop ulation information (dbSNP rs200411253). Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of the Gly2268A sp variant.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375240 SCV001572038 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Supporting, BP4_Supporting
GeneDx RCV002286708 SCV002577142 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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