ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.914T>C (p.Phe305Ser)

gnomAD frequency: 0.00003  dbSNP: rs746454503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529597 SCV000634747 uncertain significance Glycogen storage disease IXb 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 305 of the PHKB protein (p.Phe305Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs746454503, ExAC 0.001%). 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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