ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.436A>G (p.Thr146Ala)

gnomAD frequency: 0.00051  dbSNP: rs146558295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816490 SCV000957001 uncertain significance Glycogen storage disease IXb 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 146 of the PHKB protein (p.Thr146Ala). This variant is present in population databases (rs146558295, gnomAD 0.2%). 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: 659474). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261226 SCV002541325 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing

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