ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle)

dbSNP: rs2114690778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001815069 SCV002061923 uncertain significance not specified 2019-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478044 SCV002786640 uncertain significance Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 2022-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772270 SCV004672952 uncertain significance not provided 2022-06-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 850490). This variant has not been reported in the literature in individuals affected with RTN4IP1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.104_117delinsGAAGGATT, is a complex sequence change that results in the deletion of 5 and insertion of 3 amino acid(s) in the RTN4IP1 protein (p.Thr35_Arg39delinsArgArgIle).

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