Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486376 | SCV000567161 | likely pathogenic | not provided | 2017-05-10 | criteria provided, single submitter | clinical testing | The A234T variant in the MYH3 gene has been reported previously in the heterozygous state in individuals with distal arthrogryposis type 1 (DA1) and distal arthrogryposis type 2B (DA2B) (Tajsharghi et al., 2008; Kimber et al., 2012; Beck et al., 2013). Intrafamilial variable expression of DA1 and DA2B in related individuals harboring A234T has been reported (Kimber et al., 2012). The A234T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A234T 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A234T as a likely pathogenic variant. |
Fulgent Genetics, |
RCV000762979 | SCV000893424 | likely pathogenic | Freeman-Sheldon syndrome; Distal arthrogryposis type 2B1; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015208 | SCV000035465 | pathogenic | Arthrogryposis, distal, type 2B3 | 2008-08-01 | no assertion criteria provided | literature only |