ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1391C>A (p.Ala464Asp) (rs529961953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438945 SCV000517430 pathogenic not provided 2015-06-05 criteria provided, single submitter clinical testing The A464D variant in the ANO5 gene has been reported previously in the compound heterozygous statein an individual with limb-girdle muscular dystrophy type 2L (Sarkozy et al., 2013). The A464D variantwas not observed in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. TheA464D variant is a non-conservative amino acid substitution, which occurs at a position that is notconserved within a transmembrane domain. In silico analysis is inconsistent in its predictions as to whetheror not the variant is damaging to the protein structure/function. We interpret A464D as a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000438945 SCV000862975 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing

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