Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489743 | SCV000577216 | pathogenic | not provided | 2017-04-07 | criteria provided, single submitter | clinical testing | The R127W pathogenic variant in the HSPB1 gene has been reported multiple times previously in association with HSPB1-related disorders (Evgrafov et al., 2004; Tang et al., 2005; Benedetti et al., 2010). Funcational studies suggest the R127W variant impacts protein function (Almeida-Souza et al., 2010; Almeida-Souza et al., 2011; Holmgren et al., 2013). The R127W variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R127W 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 where amino acids with similar properties to Arginine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. |
Athena Diagnostics Inc | RCV000489743 | SCV000613674 | pathogenic | not provided | 2016-12-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007906 | SCV000028111 | pathogenic | Distal hereditary motor neuronopathy type 2B | 2005-08-01 | no assertion criteria provided | literature only | |
OMIM | RCV000007907 | SCV000028112 | pathogenic | Charcot-Marie-Tooth disease axonal type 2F | 2005-08-01 | no assertion criteria provided | literature only |