ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.994A>G (p.Met332Val) (rs200553437)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529030 SCV000645927 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2016-08-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 332 of the ANO5 protein (p.Met332Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs200553437, ExAC 0.01%) 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 (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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732282 SCV000860215 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing

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