ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) (rs200956636)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499859 SCV000596645 pathogenic Griscelli syndrome type 2 2016-06-27 criteria provided, single submitter clinical testing
Invitae RCV000499859 SCV000819625 pathogenic Griscelli syndrome type 2 2020-10-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RAB27A gene (p.Arg184*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 38 amino acids of the RAB27A protein. This variant is present in population databases (rs200956636, ExAC 0.01%). This variant has been reported as homozygous or in combination with other RAB27A variants in individuals and families affected with Griscelli syndrome (PMID: 15475639, 18397837, 19030707, 25071262, 25500851), and has been shown to segregate with disease in two families (PMID: 10835631, 19953648). ClinVar contains an entry for this variant (Variation ID: 436458). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090829 SCV001246576 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000499859 SCV000804202 likely pathogenic Griscelli syndrome type 2 2018-08-25 no assertion criteria provided clinical testing The observed variant c.550C>T (p.Arg184Ter) has not been reported in 1000 Genomes database and has a minor allele frequency of 0.007% in the ExAC database. The in silico prediction of the given variant is damaging by MutationTaster2 and LRT.

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