Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486033 | SCV000573461 | uncertain significance | not provided | 2017-02-20 | criteria provided, single submitter | clinical testing | The A62T variant in the HSPB1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A62T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A62T 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 not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A62T as a variant of uncertain significance. |
Genome |
RCV000509278 | SCV000607205 | not provided | HSPB1-Related Disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |