ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala)

gnomAD frequency: 0.00023  dbSNP: rs142281844
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Total submissions: 3
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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.
GeneDx 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, Mayo Clinic RCV001570506 SCV004227575 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing PP3

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