Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498978 | SCV000590195 | uncertain significance | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | The L1731F variant in the HSPG2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 12/12,160 alleles (0.99%) from individuals of South Asian background in the ExAC dataset, with no homozygous control individuals reported (Lek et al., 2016). The L1731F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L1731F as a variant of uncertain significance. |
Invitae | RCV000498978 | SCV001057936 | likely benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000498978 | SCV003809426 | uncertain significance | not provided | 2019-01-22 | criteria provided, single submitter | clinical testing |