ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.794A>G (p.Asn265Ser) (rs377553546)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500288 SCV000593212 uncertain significance not specified 2016-09-02 criteria provided, single submitter clinical testing
Invitae RCV000528209 SCV000645924 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2017-12-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 265 of the ANO5 protein (p.Asn265Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs377553546, ExAC 0.01%). This variant has been reported in an individual affected with myopathic features; however, its pathogenicity was not investigated and a second causative variant was not identified (PMID: 25891276). ClinVar contains an entry for this variant (Variation ID: 434217). 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 serine amino acid residue is also 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 or cause disease. However, 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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