ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr)

gnomAD frequency: 0.00008  dbSNP: rs535265672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647368 SCV000769163 uncertain significance Glycogen storage disease IXc 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 85 of the PHKG2 protein (p.Ala85Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs535265672, ExAC 0.009%). 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: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002261154 SCV002541323 uncertain significance not provided 2021-12-29 criteria provided, single submitter clinical testing

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