ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.637A>G (p.Arg213Gly) (rs1490746741)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520345 SCV000619586 uncertain significance not provided 2017-08-02 criteria provided, single submitter clinical testing The c.637 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.637 A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Multiple in-silico splice prediction models predict that c.637 A>G creates a cryptic splice donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies the actual effect of c.637 A>G on splicing in this individual is unknown. If c.637 A>G does not alter splicing, it will result in the R213G missense change. The R213G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with ANO5-related disorders (Stenson et al., 2014).

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