ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.620C>T (p.Thr207Met)

gnomAD frequency: 0.00004  dbSNP: rs151048993
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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 RCV000696747 SCV000825324 uncertain significance Griscelli syndrome type 2 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 207 of the RAB27A protein (p.Thr207Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs151048993, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with RAB27A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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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