ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.2611A>C (p.Met871Leu) (rs189233047)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591501 SCV000704249 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000544847 SCV000645914 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2016-11-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 871 of the ANO5 protein (p.Met871Leu). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs189233047, ExAC 0.07%) but has not been reported in the literature in individuals with a ANO5-related disease. 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 leucine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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