ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)

gnomAD frequency: 0.00007  dbSNP: rs145952475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342789 SCV001536736 uncertain significance Glycogen storage disease IXa1 2022-01-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1097 of the PHKA2 protein (p.Gly1097Ser). This variant is present in population databases (rs145952475, gnomAD 0.03%). This missense change has been observed in individuals with glycogen storage disease, type IXa (PMID: 25070466). ClinVar contains an entry for this variant (Variation ID: 1039335). 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.
CeGaT Center for Human Genetics Tuebingen RCV001531133 SCV001746112 likely pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Mendelics RCV002246320 SCV002519120 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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