ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys)

gnomAD frequency: 0.00014  dbSNP: rs145253993
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644920 SCV000766642 uncertain significance Griscelli syndrome type 2 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 6 of the RAB27A protein (p.Tyr6Cys). This variant is present in population databases (rs145253993, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of familial Mediterranean fever (PMID: 32853466). ClinVar contains an entry for this variant (Variation ID: 536463). 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 expected to disrupt RAB27A protein function. 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 RCV002263884 SCV002542916 uncertain significance Autoinflammatory syndrome 2017-10-02 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.