ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala)

dbSNP: rs1197477921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069422 SCV001234586 uncertain significance Glycogen storage disease IXb 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 352 of the PHKB protein (p.Pro352Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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