Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000498271 | SCV000339889 | uncertain significance | not provided | 2018-08-30 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000414780 | SCV000492898 | likely pathogenic | Muscular Diseases | 2014-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
RCV000627020 | SCV000747723 | pathogenic | Elevated serum creatine phosphokinase; Distal muscle weakness; Fatty replacement of skeletal muscle | 2017-01-01 | criteria provided, single submitter | clinical testing |