ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)

gnomAD frequency: 0.00022  dbSNP: rs202177461
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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, Fulgent Genetics RCV001213407 SCV002815675 uncertain significance Glycogen storage disease IXc 2022-01-17 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.