ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.242A>G (p.Asp81Gly) (rs199501657)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082846 SCV000331513 likely pathogenic not provided 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000082846 SCV000582412 likely pathogenic not provided 2015-09-22 criteria provided, single submitter clinical testing The D81G variant has been reported previously the in compound heterozygous state in an individual with elevated CK levels and lower leg weakness (Penttilä et al., 2012). The D81G variant has also been reported in the compound heterozygous state in 3 family members, under the age of 35, with elevated CpK levels, mild weakness, and a family history of disease (Sarkozy et al., 2012). This substitution was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D81G 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, pathogenic missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with muscular dystrophy (Stenson et al., 2014). Therefore, this variant is a strong candidate for a pathogenic variant; however, the possibility that it is a benign variant cannot be excluded

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