ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.557G>A (p.Arg186His)

gnomAD frequency: 0.00001  dbSNP: rs137852290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631189 SCV000752202 likely pathogenic Glycogen storage disease IXa1 2019-08-30 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been reported in several individuals affected with X-linked liver glycogenosis (PMID: 8733134, 9835437, 25266922). ClinVar contains an entry for this variant (Variation ID: 10535). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 186 of the PHKA2 protein (p.Arg186His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000631189 SCV004098684 likely pathogenic Glycogen storage disease IXa1 2023-10-25 criteria provided, single submitter clinical testing
OMIM RCV000011281 SCV000031509 pathogenic Glycogen storage disease IXa2 1998-11-01 no assertion criteria provided literature only

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