ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.2096T>C (p.Ile699Thr) (rs772625102)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528684 SCV000645901 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2016-09-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 699 of the ANO5 protein (p.Ile699Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs772625102, ExAC 0.05%) 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on 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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