ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.254C>T (p.Pro85Leu)

gnomAD frequency: 0.00016  dbSNP: rs193121821
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071972 SCV001237311 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 85 of the RTN4IP1 protein (p.Pro85Leu). This variant is present in population databases (rs193121821, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with RTN4IP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 864721). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RTN4IP1 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.
New York Genome Center RCV001263348 SCV001441390 uncertain significance Global developmental delay 2020-03-17 criteria provided, single submitter clinical testing
New York Genome Center RCV001420533 SCV001622836 uncertain significance Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 2020-07-27 criteria provided, single submitter clinical testing
GeneDx RCV001071972 SCV002028529 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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