Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155972 | SCV000205684 | uncertain significance | not specified | 2013-08-16 | criteria provided, single submitter | clinical testing | The Ala566Thr variant in JUP has not been reported in individuals with cardiomyo pathy or in large population studies. The affected amino acid is conserved in ev olution, suggesting that a change would not be tolerated. Other computational an alyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. Additional inf ormation is needed to fully assess the clinical significance of the Ala566Thr va riant. |
Gene |
RCV000767104 | SCV000535214 | uncertain significance | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |