Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001242958 | SCV001416084 | uncertain significance | Glycogen storage disease IXb | 2022-05-29 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 865 of the PHKB protein (p.Pro865Ala). This variant is present in population databases (rs142281844, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PHKB-related conditions. ClinVar contains an entry for this variant (Variation ID: 967935). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001570506 | SCV001794810 | uncertain significance | not provided | 2019-06-21 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Mayo Clinic Laboratories, |
RCV001570506 | SCV004227575 | uncertain significance | not provided | 2023-04-25 | criteria provided, single submitter | clinical testing | PP3 |