ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.820C>T (p.Arg274Cys)

gnomAD frequency: 0.00001  dbSNP: rs781197907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000637064 SCV000758512 uncertain significance Glycogen storage disease IXb 2017-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 274 of the PHKB protein (p.Arg274Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs781197907, ExAC 0.002%). This variant has not been reported in the literature in individuals with PHKB-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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