ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.2519C>T (p.Ala840Val)

gnomAD frequency: 0.00001  dbSNP: rs373871387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334300 SCV001527103 uncertain significance Hemolytic anemia due to hexokinase deficiency 2018-04-11 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 RCV002546679 SCV002941508 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 840 of the HK1 protein (p.Ala840Val). This variant is present in population databases (rs373871387, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with HK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032246). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt HK1 protein function with a positive predictive value of 80%. 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.
Revvity Omics, Revvity RCV002546679 SCV004235298 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing

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