ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)

gnomAD frequency: 0.00002  dbSNP: rs778448317
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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 RCV000793188 SCV000932529 uncertain significance Griscelli syndrome type 2 2018-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 32 of the RAB27A protein (p.Gly32Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs778448317, ExAC 0.03%). This variant has not been reported in the literature in individuals with RAB27A-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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