ClinVar Miner

Submissions for variant NM_004218.4(RAB11B):c.481G>A (p.Val161Ile)

gnomAD frequency: 0.00001  dbSNP: rs778674562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002760387 SCV003010526 uncertain significance not provided 2022-02-07 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals affected with RAB11B-related conditions. This variant is present in population databases (rs778674562, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 161 of the RAB11B protein (p.Val161Ile). 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.

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