ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)

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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 RCV002301767 SCV002589940 uncertain significance Griscelli syndrome type 2 2022-09-20 criteria provided, single submitter clinical testing 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. 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. This missense change has been observed in individual(s) with clinical features of Griscelli syndrome (Invitae). This variant is present in population databases (rs762174469, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 181 of the RAB27A protein (p.Ile181Lys).

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