ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.596T>C (p.Val199Ala)

gnomAD frequency: 0.00001  dbSNP: rs778390086
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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 RCV001343347 SCV001537317 uncertain significance Griscelli syndrome type 2 2022-09-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1039803). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAB27A protein function. This variant has not been reported in the literature in individuals affected with RAB27A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 199 of the RAB27A protein (p.Val199Ala).

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