ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) (rs375014127)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000498271 SCV000339889 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414780 SCV000492898 likely pathogenic Muscular Diseases 2014-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000498271 SCV000589776 uncertain significance not provided 2018-11-07 criteria provided, single submitter clinical testing The S555I variant was previously reported in an individual with LGMD, who harbored an additional pathogenic variant on the other ANO5 allele (in trans); however, functional studies where not performed (Kuhn et al., 2016). The S555I variant is observed in 25/126546 (0.02%) alleles from individuals of European background (Lek et al., 2016). The S555I 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000627020 SCV000747723 pathogenic Elevated serum creatine phosphokinase; Distal muscle weakness; Fatty replacement of skeletal muscle 2017-01-01 criteria provided, single submitter clinical testing

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