ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)

gnomAD frequency: 0.00001  dbSNP: rs1172702857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332259 SCV001524517 uncertain significance Hemolytic anemia due to hexokinase deficiency 2020-07-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865748 SCV002113430 uncertain significance not provided 2021-04-18 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with HK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 722 of the HK1 protein (p.Arg722Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine.

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