ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln)

gnomAD frequency: 0.00006  dbSNP: rs141362723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700237 SCV000828985 uncertain significance Griscelli syndrome type 2 2022-06-04 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 184 of the RAB27A protein (p.Arg184Gln). This variant is present in population databases (rs141362723, gnomAD 0.02%). This missense change has been observed in individual(s) with RAB27A-related conditions (PMID: 28353193, 30290665). ClinVar contains an entry for this variant (Variation ID: 577472). 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 C35"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263944 SCV002542932 uncertain significance Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing

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