ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro)

gnomAD frequency: 0.00001  dbSNP: rs1371360853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351363 SCV001545827 uncertain significance Griscelli syndrome type 2 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 70 of the RAB27A protein (p.Leu70Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RAB27A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002264276 SCV002542917 uncertain significance Autoinflammatory syndrome 2018-02-01 criteria provided, single submitter clinical testing

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