ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser)

gnomAD frequency: 0.00001  dbSNP: rs1400548271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794502 SCV000933914 uncertain significance Glycogen storage disease IXb 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 904 of the PHKB protein (p.Pro904Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PHKB-related conditions. 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.

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