Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213407 | SCV001385036 | uncertain significance | Glycogen storage disease IXc | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with tyrosine at codon 43 of the PHKG2 protein (p.His43Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs202177461, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PHKG2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Baylor Genetics | RCV001213407 | SCV001527193 | uncertain significance | Glycogen storage disease IXc | 2018-06-27 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV001213407 | SCV002815675 | uncertain significance | Glycogen storage disease IXc | 2022-01-17 | criteria provided, single submitter | clinical testing |