Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000414733 | SCV000613705 | likely benign | not specified | 2016-11-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757382 | SCV000885583 | uncertain significance | not provided | 2017-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000757382 | SCV001047855 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757382 | SCV001768218 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533) |
Revvity Omics, |
RCV000757382 | SCV003809226 | uncertain significance | not provided | 2020-04-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000414733 | SCV000491720 | uncertain significance | not specified | 2016-11-22 | flagged submission | clinical testing | The H50L variant in the HSPG2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports H50L was observed in 12/4406 (0.27%) alleles from individuals of African American background, indicating it may be a rare variant in this population. The H50L 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 is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret H50Las a variant of uncertain significance. |