ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.88C>G (p.Gln30Glu) (rs747575706)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548483 SCV000645926 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2017-05-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 30 of the ANO5 protein (p.Gln30Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs747575706, ExAC 0.008%) but has not been reported in the literature in individuals with an ANO5-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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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