ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)

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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 RCV002932504 SCV003260368 uncertain significance Griscelli syndrome type 2 2022-03-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 85 of the RAB27A protein (p.Thr85Met). This variant is present in population databases (rs773233108, gnomAD 0.007%). This missense change has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 30899265). 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.

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