ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) (rs150440590)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000379503 SCV000464336 uncertain significance Carpenter syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000379503 SCV000949711 uncertain significance Carpenter syndrome 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 179 of the RAB23 protein (p.Glu179Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is present in population databases (rs150440590, ExAC 0.07%). This variant has not been reported in the literature in individuals with RAB23-related disease. ClinVar contains an entry for this variant (Variation ID: 357642). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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